Allele Registry

Canonical Allele Identifier: PA129941

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000029199

RCV000724837

RCV001270895

ClinVar Variation:

35544

HGVS (amino-acid)	Matching Registered Transcripts
NP_004306.3:p.Thr58Met	CA129940 NM_004315.6:c.173C>T