Allele Registry

Canonical Allele Identifier: PA103039

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000415065

RCV000823177

ClinVar Variation:

374049

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Pro474Leu	CA8913468 NM_000271.5:c.1421C>T