ClinGen Allele Registry
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Canonical Allele Identifier:
CA1939189241
Community Standard Title: NC_000010.11:g.117450864T=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.117450864T= , CM000672.2:g.117450864T=
GRCh38
NC_000010.10:g.119210375T= , CM000672.1:g.119210375T=
GRCh37
NC_000010.9:g.119200365T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_946344.1:n.95-4189T=
Search 100 bp 5'
Search 100 bp 3'