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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:
CA917262527
Gene: ADH1C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1579538634
gnomAD v4:
4-99352995-C-CTCA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99352996_99352998dup , CM000666.2:g.99352996_99352998dup
GRCh38
NC_000004.11:g.100274153_100274155dup , CM000666.1:g.100274153_100274155dup
GRCh37
NC_000004.10:g.100493176_100493178dup
NCBI36
NG_011718.1:g.4763_4765dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000515683.5:c.-323_-321dup
ENSP00000426083.1:n.-323_-321dup
NM_000669.4:c.-323_-321dup
NP_000660.1:n.-323_-321dup
NR_133005.1:n.48_50dup
XM_011531589.1:c.-563_-561dup
XP_011529891.1:n.-563_-561dup
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