Canonical Allele Identifier: CA1703813887
Gene: NPC1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541392T= , CM000669.2:g.44541392T= GRCh38
NC_000007.13:g.44580991T= , CM000669.1:g.44580991T= GRCh37
NC_000007.12:g.44547516T= NCBI36
NG_013088.1:g.4924A=

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.260A=