Allele Registry

Canonical Allele Identifier: PA2825624379

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000029199

RCV000724837

RCV001270895

ClinVar Variation:

35544

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120977.1:p.Thr58Ile	CA129940 NM_001127505.3:c.173C>T