ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2619036705
Gene:
Linked Data
gnomAD v4:
12-53307392-A-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.53307392A>C , CM000674.2:g.53307392A>C
GRCh38
NC_000012.11:g.53701176A>C , CM000674.1:g.53701176A>C
GRCh37
NC_000012.10:g.51987443A>C
NCBI36
NG_016775.1:g.19237T>G
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