Allele Registry

Canonical Allele Identifier: PA099483

Gene: ACTN1 HGNC NCBI

ClinVar RCV:

RCV000034871

RCV000851847

ClinVar Variation:

42033

HGVS (amino-acid)	Matching Registered Transcripts
NP_001093.1:p.Glu225Lys	CA130973 NM_001102.4:c.673G>A