ClinGen Allele Registry
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Canonical Allele Identifier:
CA264850480
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr14:g.83452020T>C
GRCh37
chr14:g.83918364T>C
Linked Data - Sequence & Population
gnomAD v2:
14:83918364 T / C
gnomAD v3:
14:83452020 T / C
gnomAD v4:
chr14-83452020-T-C
Joint Max Group AF
0.99350859 (NFE)
Genomes Max Group AF
0.99350859 (NFE)
Linked Data - NCBI & NCI
dbSNP:
229813
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.83452020T>C , CM000676.2:g.83452020T>C
GRCh38
NC_000014.8:g.83918364T>C , CM000676.1:g.83918364T>C
GRCh37
NC_000014.7:g.82988117T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'