Canonical Allele Identifier: CA1703813895
Gene: NPC1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541405T= , CM000669.2:g.44541405T= GRCh38
NC_000007.13:g.44581004T= , CM000669.1:g.44581004T= GRCh37
NC_000007.12:g.44547529T= NCBI36
NG_013088.1:g.4911A=

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.247A=