ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA245348175
Gene:
Linked Data
dbSNP Id:
rs548199008
gnomAD v3:
12-130127186-A-G
gnomAD v4:
12-130127186-A-G
MyVariant Identifiers:
chr12:g.130611731A>G (hg19)
chr12:g.130127186A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.130127186A>G , CM000674.2:g.130127186A>G
GRCh38
NC_000012.11:g.130611731A>G , CM000674.1:g.130611731A>G
GRCh37
NC_000012.10:g.129177684A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'