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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA800725882
Gene: ADH1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1203490978
gnomAD v2:
4-100274145-CTCCTCTCTCAAGT-C
gnomAD v3:
4-99352988-CTCCTCTCTCAAGT-C
gnomAD v4:
4-99352988-CTCCTCTCTCAAGT-C
MyVariant Identifiers:
chr4:g.100274146_100274158del (hg19)
chr4:g.99352989_99353001del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99352993_99353005del , CM000666.2:g.99352993_99353005del
GRCh38
NC_000004.11:g.100274150_100274162del , CM000666.1:g.100274150_100274162del
GRCh37
NC_000004.10:g.100493173_100493185del
NCBI36
NG_011718.1:g.4760_4772del
Transcript Alleles
HGVS
Amino-acid change
ENST00000515683.5:c.-326_-314del
ENSP00000426083.1:n.-326_-314del
NM_000669.4:c.-326_-314del
NP_000660.1:n.-326_-314del
NR_133005.1:n.45_57del
XM_011531589.1:c.-566_-554del
XP_011529891.1:n.-566_-554del
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