Canonical Allele Identifier: CA2682631114
Gene: NPC1L1 HGNC NCBI

Linked Data

gnomAD v4: 7-44541405-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541405T>A , CM000669.2:g.44541405T>A GRCh38
NC_000007.13:g.44581004T>A , CM000669.1:g.44581004T>A GRCh37
NC_000007.12:g.44547529T>A NCBI36
NG_013088.1:g.4911A>T

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.247A>T