Allele Registry

Canonical Allele Identifier: PA2825546250

Gene: NPC1L1 HGNC NCBI

ClinVar RCV:

RCV000002739

RCV000455151

ClinVar Variation:

2621

HGVS (amino-acid)	Matching Registered Transcripts
NP_001095118.1:p.Ile1206Asn	CA115648 NM_001101648.2:c.3617T>A