Allele Registry

Canonical Allele Identifier: PA2828890468

Gene: MYO5A HGNC NCBI

ClinVar RCV:

RCV001779923

RCV002074075

ClinVar Variation:

1321831

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369277.1:p.Glu386Asp	CA7569047 NM_001382348.1:c.1158A>C CA392524962 NM_001382348.1:c.1158A>T