Allele Registry

Canonical Allele Identifier: PA102792

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003099

ClinVar Variation:

2965

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Leu1213Phe	CA115898 NM_000271.5:c.3639G>C CA401790750 NM_000271.5:c.3639G>T