Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA658664339

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447443

ClinVar RCV Id: RCV000668102 RCV003335444 RCV001857901

ClinVar Variation Id: 2979737

ClinVar RCV Id: RCV003834847

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Val63Leu	CA6904306 NM_004004.6:c.187G>T CA387461664 NM_004004.6:c.187G>C