ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2612162077
Gene:
Linked Data
gnomAD v4:
11-5225442-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225442C>A , CM000673.2:g.5225442C>A
GRCh38
NC_000011.9:g.5246672C>A , CM000673.1:g.5246672C>A
GRCh37
NC_000011.8:g.5203248C>A
NCBI36
NG_000007.3:g.72174G>T
NG_059281.1:g.6630G>T
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