Allele Registry

Canonical Allele Identifier: PA2828108495

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000171533

RCV001728167

ClinVar Variation:

191340

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350672.1:p.Trp104Arg	CA236461 NM_001363743.1:c.310T>C CA370430327 NM_001363743.1:c.310T>A