Allele Registry

Canonical Allele Identifier: PA102502

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000020226

ClinVar Variation:

21134

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Gln775Pro	CA341662 NM_000271.5:c.2324A>C