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: PA134972

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44748

ClinVar RCV Id: RCV000037850 RCV000988960

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ser138Gly	CA134971 NM_004004.6:c.412A>G