Allele Registry

Canonical Allele Identifier: PA2825625042

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000363473

RCV000422429

RCV004549825

ClinVar Variation:

362373

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120977.1:p.Val363Ile	CA4650510 NM_001127505.3:c.1087G>A