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ClinGen Allele Registry
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Canonical Allele Identifier:
CA2580597118
Community Standard Title: NC_000009.12:g.27543283T>G
Gene: C9orf72
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.27543283T>G , CM000671.2:g.27543283T>G
GRCh38
NC_000009.11:g.27543281T>G , CM000671.1:g.27543281T>G
GRCh37
NC_000009.10:g.27533281T>G
NCBI36
NG_031977.2:g.35584A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000673600.1:c.*267+4832A>C
ENSP00000500650.1:n.*267+4832A>C
XR_001746639.2:n.862A>C
Search 100 bp 5'
Search 100 bp 3'