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.
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Canonical Allele Identifier: PA2573076975

Gene: MYO5A HGNC NCBI

Linked Data

ClinVar Variation Id: 242881

ClinVar RCV Id: RCV000490925

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369278.1:p.Ser1424Arg	CA392508824 NM_001382349.1:c.4272C>G CA392508826 NM_001382349.1:c.4272C>A CA392508838 NM_001382349.1:c.4270A>C