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: PA2499230351

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007108

ClinVar RCV Id: RCV001304248 RCV002327665

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000248.2:p.Lys1457Asn	CA389038853 NM_000257.4:c.4371G>T CA389038856 NM_000257.4:c.4371G>C