Allele Registry

Canonical Allele Identifier: PA2828108571

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000245912

RCV000310101

RCV000675803

RCV001553844

RCV002500901

ClinVar Variation:

259283

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350672.1:p.Val181Ala	CA4650694 NM_001363743.1:c.542T>C