ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2577413041
Gene:
Linked Data
gnomAD v4:
20-45948093-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45948093C>A , CM000682.2:g.45948093C>A
GRCh38
NC_000020.10:g.44576732C>A , CM000682.1:g.44576732C>A
GRCh37
NC_000020.9:g.44010139C>A
NCBI36
NG_029772.1:g.29102G>T
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