Canonical Allele Identifier: CA2682631051
Gene: NPC1L1 HGNC NCBI

Linked Data

gnomAD v4: 7-44541386-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541386T>C , CM000669.2:g.44541386T>C GRCh38
NC_000007.13:g.44580985T>C , CM000669.1:g.44580985T>C GRCh37
NC_000007.12:g.44547510T>C NCBI36
NG_013088.1:g.4930A>G

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.266A>G
Search 100 bp 5'
Search 100 bp 3'