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: PA2741907232

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2643669

ClinVar RCV Id: RCV003398328

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ile140Ser	CA387461185 NM_004004.6:c.419T>G