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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:
CA1479953033
Gene: ADH1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1734033354
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99321659_99321660del , CM000666.2:g.99321659_99321660del
GRCh38
NC_000004.11:g.100242816_100242817del , CM000666.1:g.100242816_100242817del
GRCh37
NC_000004.10:g.100461839_100461840del
NCBI36
NG_011435.1:g.4756_4757del
Transcript Alleles
HGVS
Amino-acid change
ENST00000639454.1:c.19-2774_19-2773del
ENSP00000491622.1:n.19-2774_19-2773del
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