ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2293960123
Gene:
Linked Data
dbSNP Id:
rs567870924
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31756620G>C , CM000680.2:g.31756620G>C
GRCh38
NC_000018.9:g.29336583G>C , CM000680.1:g.29336583G>C
GRCh37
NC_000018.8:g.27590581G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935338.1:n.66-5519G>C
Search 100 bp 5'
Search 100 bp 3'