ClinGen Allele Registry
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Canonical Allele Identifier:
CA293677523
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.69951455T>C
GRCh37
chr17:g.67947596T>C
Linked Data - Sequence & Population
gnomAD v2:
17:67947596 T / C
gnomAD v3:
17:69951455 T / C
gnomAD v4:
chr17-69951455-T-C
Joint Max Group AF
0.93813467 (EAS)
Genomes Max Group AF
0.93813467 (EAS)
Linked Data - NCBI & NCI
dbSNP:
180088
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.69951455T>C , CM000679.2:g.69951455T>C
GRCh38
NC_000017.10:g.67947596T>C , CM000679.1:g.67947596T>C
GRCh37
NC_000017.9:g.65459191T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'