Allele Registry

Canonical Allele Identifier: PA102238

Gene: NPC1 HGNC NCBI

ClinVar RCV:

RCV000668091

ClinVar Variation:

552768

HGVS (amino-acid)	Matching Registered Transcripts
NP_000262.2:p.Asn1156Ile	CA401791138 NM_000271.5:c.3467A>T