ClinGen Allele Registry
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Canonical Allele Identifier:
CA13638384
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr12:g.130120384T>C
GRCh37
chr12:g.130604929T>C
Linked Data - Sequence & Population
gnomAD v2:
12:130604929 T / C
gnomAD v3:
12:130120384 T / C
gnomAD v4:
chr12-130120384-T-C
Joint Max Group AF
0.36449556 (AFR)
Genomes Max Group AF
0.36449556 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1027557
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.130120384T>C , CM000674.2:g.130120384T>C
GRCh38
NC_000012.11:g.130604929T>C , CM000674.1:g.130604929T>C
GRCh37
NC_000012.10:g.129170882T>C
NCBI36
Search 100 bp 5'
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