ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2543086172
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.80263043C>T , CM000666.2:g.80263043C>T
GRCh38
NC_000004.11:g.81184197C>T , CM000666.1:g.81184197C>T
GRCh37
NC_000004.10:g.81403221C>T
NCBI36
NG_029501.1:g.1456C>T
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