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: PA658699425

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496219

ClinVar RCV Id: RCV000587675

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Lys103del	CA387461428 NM_004004.6:c.307A>T CA387461433 NM_004004.6:c.304A>T CA645587645 NM_004004.6:c.308_310del