ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1254823416
Gene:
Linked Data - NCBI & NCI
dbSNP:
243088
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.60341610A>G , CM000664.2:g.60341610A>G
GRCh38
NC_000002.11:g.60568745A>G , CM000664.1:g.60568745A>G
GRCh37
NC_000002.10:g.60422249A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940134.1:n.987+1207T>C
Search 100 bp 5'
Search 100 bp 3'