Allele Registry

Canonical Allele Identifier: PA102978

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000003100

RCV000254671

RCV000321958

RCV000415371

RCV002512691

RCV003952339

ClinVar Variation:

2966

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Pro1007Ala	CA340032 NM_000271.5:c.3019C>G