Allele Registry

Canonical Allele Identifier: PA2830372548

Gene: ACTL6A HGNC NCBI

ClinVar RCV:

RCV000664185

RCV001531585

RCV001533037

ClinVar Variation:

549661

HGVS (amino-acid)	Matching Registered Transcripts
NP_829888.1:p.Arg335Trp	CA88577571 NM_178042.4:c.1003C>T