ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2254230308
Gene:
Linked Data - NCBI & NCI
dbSNP:
2006933
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.28274107T>C , CM000679.2:g.28274107T>C
GRCh38
NC_000017.10:g.26601133T>C , CM000679.1:g.26601133T>C
GRCh37
NC_000017.9:g.23625260T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934642.1:n.815+981A>G
Search 100 bp 5'
Search 100 bp 3'