ClinGen Allele Registry
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Canonical Allele Identifier:
CA291509564
Gene:
Linked Data
dbSNP Id:
rs931090957
rs2151407706
MyVariant Identifiers:
chr17:g.48072731T>C (hg19)
chr17:g.49995367T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995367T>C , CM000679.2:g.49995367T>C
GRCh38
NC_000017.10:g.48072731T>C , CM000679.1:g.48072731T>C
GRCh37
NC_000017.9:g.45427730T>C
NCBI36
NG_023063.1:g.4858A>G
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