Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: ASAH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000490272.1:p.Trp248Cys	CA370429375 ENST00000637790.2:c.744G>T CA370429376 ENST00000637790.2:c.744G>C