ClinGen Allele Registry
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Canonical Allele Identifier:
CA245348201
Gene:
Linked Data
dbSNP Id:
rs996174212
MyVariant Identifiers:
chr12:g.130611768T>C (hg19)
chr12:g.130127223T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.130127223T>C , CM000674.2:g.130127223T>C
GRCh38
NC_000012.11:g.130611768T>C , CM000674.1:g.130611768T>C
GRCh37
NC_000012.10:g.129177721T>C
NCBI36
Search 100 bp 5'
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