ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2662973240
Gene:
Linked Data
gnomAD v4:
2-214809832-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.214809832T>C , CM000664.2:g.214809832T>C
GRCh38
NC_000002.11:g.215674556T>C , CM000664.1:g.215674556T>C
GRCh37
NC_000002.10:g.215382801T>C
NCBI36
NG_012047.2:g.4873A>G
NG_012047.3:g.4880A>G
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