Canonical Allele Identifier: CA1703813890
Gene: NPC1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541397C= , CM000669.2:g.44541397C= GRCh38
NC_000007.13:g.44580996C= , CM000669.1:g.44580996C= GRCh37
NC_000007.12:g.44547521C= NCBI36
NG_013088.1:g.4919G=

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.255G=