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: PA2825112916

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2579866

ClinVar RCV Id: RCV003328841

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000248.2:p.Asn1502Lys	CA389038268 NM_000257.4:c.4506C>G CA389038269 NM_000257.4:c.4506C>A