ClinGen Allele Registry
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Canonical Allele Identifier:
CA605243868
Gene:
Linked Data
dbSNP Id:
rs1342221599
gnomAD v2:
12-53701228-C-T
MyVariant Identifiers:
chr12:g.53701228C>T (hg19)
chr12:g.53307444C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.53307444C>T , CM000674.2:g.53307444C>T
GRCh38
NC_000012.11:g.53701228C>T , CM000674.1:g.53701228C>T
GRCh37
NC_000012.10:g.51987495C>T
NCBI36
NG_016775.1:g.19185G>A
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