Canonical Allele Identifier: CA2682630999
Gene: NPC1L1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541370del , CM000669.2:g.44541370del GRCh38
NC_000007.13:g.44580969del , CM000669.1:g.44580969del GRCh37
NC_000007.12:g.44547494del NCBI36
NG_013088.1:g.4946del

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.282del