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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:
CA2671523590
Gene: ADH1C
HGNC
NCBI
Linked Data
gnomAD v4:
4-99352990-CCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99352996_99352997del , CM000666.2:g.99352996_99352997del
GRCh38
NC_000004.11:g.100274153_100274154del , CM000666.1:g.100274153_100274154del
GRCh37
NC_000004.10:g.100493176_100493177del
NCBI36
NG_011718.1:g.4769_4770del
Transcript Alleles
HGVS
Amino-acid change
ENST00000515683.5:c.-317_-316del
ENSP00000426083.1:n.-317_-316del
NM_000669.4:c.-317_-316del
NP_000660.1:n.-317_-316del
NR_133005.1:n.54_55del
XM_011531589.1:c.-557_-556del
XP_011529891.1:n.-557_-556del
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