Allele Registry

Canonical Allele Identifier: PA115649

Gene: NPC1L1 HGNC NCBI

ClinVar RCV:

RCV000002739

RCV000455151

ClinVar Variation:

2621

HGVS (amino-acid)	Matching Registered Transcripts
NP_037521.2:p.Ile1233Asn	CA115648 NM_013389.3:c.3698T>A