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: PA2499230307

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172062

ClinVar RCV Id: RCV001525665 RCV001810065

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000248.2:p.Ile263Leu	CA389052053 NM_000257.4:c.787A>T CA389052055 NM_000257.4:c.787A>C