Canonical Allele Identifier: PA2825546154
Gene: NPC1L1 HGNC NCBI
ClinVar RCV:
RCV000002738
ClinVar Variation:
2620
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001095118.1:p.Val55Leu
CA115646
NM_001101648.2:c.163G>T
CA4242524
NM_001101648.2:c.163G>C