Allele Registry

Canonical Allele Identifier: PA2830368775

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000253040

RCV000343910

RCV000675810

RCV001554039

RCV003699441

ClinVar Variation:

259278

2858589

HGVS (amino-acid)	Matching Registered Transcripts
NP_808592.2:p.Val72Met	CA4650981 NM_177924.5:c.214G>A CA2739278549 NM_177924.5:c.213_214delinsGA