Allele Registry

Canonical Allele Identifier: PA658831994

Gene: ACTL6A HGNC NCBI

ClinVar RCV:

RCV000664185

RCV001531585

RCV001533037

ClinVar Variation:

549661

HGVS (amino-acid)	Matching Registered Transcripts
NP_004292.1:p.Arg377Trp	CA88577571 NM_004301.5:c.1129C>T