ClinGen Allele Registry
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Canonical Allele Identifier:
CA1703813895
Gene: NPC1L1
HGNC
NCBI
JSON-LD
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=
Search 100 bp 5'
Search 100 bp 3'