Allele Registry

Canonical Allele Identifier: PA645400460

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000253040

RCV000343910

RCV000675810

RCV001554039

RCV003699441

ClinVar Variation:

259278

2858589

HGVS (amino-acid)	Matching Registered Transcripts
NP_004306.3:p.Val88Met	CA4650981 NM_004315.6:c.262G>A CA2739278549 NM_004315.6:c.261_262delinsGA