ClinGen Allele Registry
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Canonical Allele Identifier:
CA231870210
Gene:
Linked Data
dbSNP Id:
rs993231663
gnomAD v3:
12-5047129-C-T
gnomAD v4:
12-5047129-C-T
MyVariant Identifiers:
chr12:g.5156295C>T (hg19)
chr12:g.5047129C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.5047129C>T , CM000674.2:g.5047129C>T
GRCh38
NC_000012.11:g.5156295C>T , CM000674.1:g.5156295C>T
GRCh37
NC_000012.10:g.5026556C>T
NCBI36
NG_012198.1:g.8211C>T
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