Allele Registry

Canonical Allele Identifier: PA645400473

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000245912

RCV000310101

RCV000675803

RCV001553844

RCV002500901

ClinVar Variation:

259283

HGVS (amino-acid)	Matching Registered Transcripts
NP_004306.3:p.Val262Ala	CA4650694 NM_004315.6:c.785T>C