Allele Registry

Canonical Allele Identifier: PA102820

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000415070

ClinVar Variation:

374167

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Leu684Phe	CA16043539 NM_000271.5:c.2050C>T