ClinGen Allele Registry
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Canonical Allele Identifier:
CA14759099
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr20:g.48150492C>T
GRCh37
chr20:g.46779235C>T
Linked Data - Sequence & Population
gnomAD v2:
20:46779235 C / T
gnomAD v3:
20:48150492 C / T
gnomAD v4:
chr20-48150492-C-T
Joint Max Group AF
0.49386262 (NFE)
Genomes Max Group AF
0.49386262 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11086243
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.48150492C>T , CM000682.2:g.48150492C>T
GRCh38
NC_000020.10:g.46779235C>T , CM000682.1:g.46779235C>T
GRCh37
NC_000020.9:g.46212642C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'