Allele Registry

Canonical Allele Identifier: PA236462

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000171533

RCV001728167

ClinVar Variation:

191340

HGVS (amino-acid)	Matching Registered Transcripts
NP_004306.3:p.Trp185Arg	CA236461 NM_004315.6:c.553T>C CA370430327 NM_004315.6:c.553T>A