Canonical Allele Identifier: CA2682631094
Gene: NPC1L1 HGNC NCBI

Linked Data

gnomAD v4: 7-44541398-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541398C>T , CM000669.2:g.44541398C>T GRCh38
NC_000007.13:g.44580997C>T , CM000669.1:g.44580997C>T GRCh37
NC_000007.12:g.44547522C>T NCBI36
NG_013088.1:g.4918G>A

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.254G>A
Search 100 bp 5'
Search 100 bp 3'