ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2619036446
Gene:
Linked Data
gnomAD v4:
12-53307230-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.53307230T>G , CM000674.2:g.53307230T>G
GRCh38
NC_000012.11:g.53701014T>G , CM000674.1:g.53701014T>G
GRCh37
NC_000012.10:g.51987281T>G
NCBI36
NG_016775.1:g.19399A>C
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