ClinGen Allele Registry
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Canonical Allele Identifier:
CA245348180
Gene:
Linked Data
dbSNP Id:
rs748617553
gnomAD v2:
12-130611738-T-C
gnomAD v3:
12-130127193-T-C
gnomAD v4:
12-130127193-T-C
MyVariant Identifiers:
chr12:g.130611738T>C (hg19)
chr12:g.130127193T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.130127193T>C , CM000674.2:g.130127193T>C
GRCh38
NC_000012.11:g.130611738T>C , CM000674.1:g.130611738T>C
GRCh37
NC_000012.10:g.129177691T>C
NCBI36
Search 100 bp 5'
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