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: HPS1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000514150.1:p.Asn95Lys	CA378055188 ENST00000699133.1:c.285T>G CA378055192 ENST00000699133.1:c.285T>A