Allele Registry

Canonical Allele Identifier: PA103154

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000415919

ClinVar Variation:

374777

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Ser849Ile	CA16043892 NM_000271.5:c.2546G>T