ClinGen Allele Registry
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Canonical Allele Identifier:
CA15658980
Community Standard Title: NC_000010.11:g.94991513T>C
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94991513T>C , CM000672.2:g.94991513T>C
GRCh38
NC_000010.10:g.96751270T>C , CM000672.1:g.96751270T>C
GRCh37
NC_000010.9:g.96741260T>C
NCBI36
NG_008385.2:g.58356T>C
Transcript Alleles
HGVS
Amino-acid Change
XR_001747556.1:n.2949A>G
Search 100 bp 5'
Search 100 bp 3'