ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2575173799
Gene:
Linked Data
gnomAD v4:
12-53307394-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.53307394G>T , CM000674.2:g.53307394G>T
GRCh38
NC_000012.11:g.53701178G>T , CM000674.1:g.53701178G>T
GRCh37
NC_000012.10:g.51987445G>T
NCBI36
NG_016775.1:g.19235C>A
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