ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2686820519
Gene:
Linked Data
gnomAD v4:
8-30728139-A-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728139A>G , CM000670.2:g.30728139A>G
GRCh38
NC_000008.10:g.30585656A>G , CM000670.1:g.30585656A>G
GRCh37
NC_000008.9:g.30705198A>G
NCBI36
NG_027719.1:g.4831T>C
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