Allele Registry

Canonical Allele Identifier: PA915967003

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000253040

RCV000343910

RCV000675810

RCV001554039

RCV003699441

ClinVar Variation:

259278

2858589

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120977.1:p.Val95Met	CA4650981 NM_001127505.3:c.283G>A CA2739278549 NM_001127505.3:c.282_283delinsGA