Canonical Allele Identifier: CA1703813858

Gene: NPC1L1

Linked Data

• dbSNP Id: rs1802098315

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541340T>G , CM000669.2:g.44541340T>G	GRCh38
NC_000007.13:g.44580939T>G , CM000669.1:g.44580939T>G	GRCh37
NC_000007.12:g.44547464T>G	NCBI36
NG_013088.1:g.4976A>C

Transcript Alleles

HGVS	Amino-acid Change
XM_011515326.3:c.-81A>C	XP_011513628.1:n.-81A>C
XR_002956423.1:n.312A>C