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: PA2828321555

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 932085

ClinVar RCV Id: RCV001199231 RCV001863138

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356294.1:p.Met1945Ile	CA381934246 NM_001369365.1:c.5835G>A CA381934248 NM_001369365.1:c.5835G>C CA381934250 NM_001369365.1:c.5835G>T