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: PA177054

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 164392

ClinVar RCV Id: RCV000599626 RCV002381471

ClinVar Variation Id: 571159

ClinVar RCV Id: RCV000692213 RCV002386201

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000248.2:p.Phe247Leu	CA016744 NM_000257.4:c.739T>C CA389052141 NM_000257.4:c.741C>G CA389052142 NM_000257.4:c.741C>A