Allele Registry

Canonical Allele Identifier: PA2830368943

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000275237

RCV000656011

RCV000710620

RCV002509374

RCV002523650

RCV004549826

ClinVar Variation:

362376

HGVS (amino-acid)	Matching Registered Transcripts
NP_808592.2:p.Met210Thr	CA4650763 NM_177924.5:c.629T>C