Allele Registry

Canonical Allele Identifier: PA645400478

Gene: ASAH1 HGNC NCBI

ClinVar RCV:

RCV000363473

RCV000422429

RCV004549825

ClinVar Variation:

362373

HGVS (amino-acid)	Matching Registered Transcripts
NP_004306.3:p.Val385Ile	CA4650510 NM_004315.6:c.1153G>A