Canonical Allele Identifier: PA2825546191
Gene: NPC1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3038217
ClinVar RCV Id: RCV003919704
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001095118.1:p.Arg417Trp
CA4242248
NM_001101648.2:c.1249C>T