Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Canonical Allele Identifier: PA098319

Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637639

ClinVar RCV Id: RCV000789902

ClinVar Variation Id: 2429345

ClinVar RCV Id: RCV003126286

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Phe193Leu	CA413503215 NM_000166.6:c.577T>C CA413503220 NM_000166.6:c.579C>A CA413503221 NM_000166.6:c.579C>G