ClinGen Allele Registry
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Canonical Allele Identifier:
CA126577478
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.121270010T>C
GRCh37
chr5:g.120605705T>C
Linked Data - Sequence & Population
gnomAD v2:
5:120605705 T / C
gnomAD v3:
5:121270010 T / C
gnomAD v4:
chr5-121270010-T-C
Joint Max Group AF
0.19266042 (AFR)
Genomes Max Group AF
0.19266042 (AFR)
Linked Data - NCBI & NCI
dbSNP:
17147528
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.121270010T>C , CM000667.2:g.121270010T>C
GRCh38
NC_000005.9:g.120605705T>C , CM000667.1:g.120605705T>C
GRCh37
NC_000005.8:g.120633604T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'