Allele Registry

Canonical Allele Identifier: PA645411631

Gene: NPC1 HGNC NCBI

ClinVar Allele:

360478

ClinVar RCV:

RCV000414206

RCV000779241

ClinVar Variation:

372774

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Val950Gly	CA16043142 NM_000271.5:c.2849T>G