Canonical Allele Identifier: CA1703813872
Gene: NPC1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541358_44541359delinsAC , CM000669.2:g.44541358_44541359delinsAC GRCh38
NC_000007.13:g.44580957_44580958delinsAC , CM000669.1:g.44580957_44580958delinsAC GRCh37
NC_000007.12:g.44547482_44547483delinsAC NCBI36
NG_013088.1:g.4957_4958delinsGT

Transcript Alleles

HGVS Amino-acid Change
XM_011515326.3:c.-100_-99delinsGT XP_011513628.1:n.-100_-99delinsGT
XR_002956423.1:n.293_294delinsGT
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