Allele Registry

Canonical Allele Identifier: PA145971

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000078484

RCV000610094

RCV000675581

ClinVar Variation:

92714

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.His215Arg	CA145970 NM_000271.5:c.644A>G