Canonical Allele Identifier: CA2596636687
Gene: NPC1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1802099653
gnomAD v3: 7-44541409-T-G
gnomAD v4: 7-44541409-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541409T>G , CM000669.2:g.44541409T>G GRCh38
NC_000007.13:g.44581008T>G , CM000669.1:g.44581008T>G GRCh37
NC_000007.12:g.44547533T>G NCBI36
NG_013088.1:g.4907A>C

Transcript Alleles

HGVS Amino-acid change
XR_002956423.1:n.243A>C
Search 100 bp 5'
Search 100 bp 3'