ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2686820517
Gene:
Linked Data
gnomAD v4:
8-30728137-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728137T>C , CM000670.2:g.30728137T>C
GRCh38
NC_000008.10:g.30585654T>C , CM000670.1:g.30585654T>C
GRCh37
NC_000008.9:g.30705196T>C
NCBI36
NG_027719.1:g.4833A>G
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