ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2622977084
Gene:
Linked Data
gnomAD v4:
13-48303743-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.48303743C>A , CM000675.2:g.48303743C>A
GRCh38
NC_000013.10:g.48877879C>A , CM000675.1:g.48877879C>A
GRCh37
NC_000013.9:g.47775880C>A
NCBI36
NG_009009.1:g.4997C>A , LRG_517:g.4997C>A
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