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: PA1139679874

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 942927

ClinVar RCV Id: RCV001213014

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120652.1:p.Lys643Asn	CA381938622 NM_001127180.2:c.1929G>C CA381938623 NM_001127180.2:c.1929G>T