ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2569551740
Gene:
Linked Data
gnomAD v4:
13-48303708-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.48303708C>T , CM000675.2:g.48303708C>T
GRCh38
NC_000013.10:g.48877844C>T , CM000675.1:g.48877844C>T
GRCh37
NC_000013.9:g.47775845C>T
NCBI36
NG_009009.1:g.4962C>T , LRG_517:g.4962C>T
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