Allele Registry

Canonical Allele Identifier: PA2499282388

Gene: ACTL6B HGNC NCBI

ClinVar RCV:

RCV001702303

ClinVar Variation:

1285116

HGVS (amino-acid)	Matching Registered Transcripts
NP_057272.1:p.Glu48Asp	CA4387342 NM_016188.5:c.144G>C CA368549538 NM_016188.5:c.144G>T