Allele Registry

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.

Canonical Allele Identifier: PA255237

Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10434

ClinVar RCV Id: RCV000011179

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Trp133Arg	CA255235 NM_001097642.3:c.397T>C CA413502175 NM_001097642.3:c.397T>A