Canonical Allele Identifier: CA2682631061
Gene: NPC1L1 HGNC NCBI

Linked Data

gnomAD v4: 7-44541388-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541388A>C , CM000669.2:g.44541388A>C GRCh38
NC_000007.13:g.44580987A>C , CM000669.1:g.44580987A>C GRCh37
NC_000007.12:g.44547512A>C NCBI36
NG_013088.1:g.4928T>G

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.264T>G