ClinGen Allele Registry
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Canonical Allele Identifier:
CA2544493607
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995347T>C , CM000679.2:g.49995347T>C
GRCh38
NC_000017.10:g.48072711T>C , CM000679.1:g.48072711T>C
GRCh37
NC_000017.9:g.45427710T>C
NCBI36
NG_023063.1:g.4878A>G
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