ClinGen Allele Registry
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Canonical Allele Identifier:
CA2734957268
Gene:
Linked Data
dbSNP Id:
rs2144835132
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.31756588C>T , CM000680.2:g.31756588C>T
GRCh38
NC_000018.9:g.29336551C>T , CM000680.1:g.29336551C>T
GRCh37
NC_000018.8:g.27590549C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_935338.1:n.66-5551C>T
Search 100 bp 5'
Search 100 bp 3'