Allele Registry

Canonical Allele Identifier: PA297010

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000261387

RCV001850230

ClinVar Variation:

181454

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Arg161Trp	CA297009 NM_000271.5:c.481C>T