ClinGen Allele Registry
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Canonical Allele Identifier:
CA11761280
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.140572807T>C
GRCh37
chr4:g.141493961T>C
Linked Data - Sequence & Population
gnomAD v2:
4:141493961 T / C
gnomAD v3:
4:140572807 T / C
gnomAD v4:
chr4-140572807-T-C
Joint Max Group AF
0.65723464 (AFR)
Genomes Max Group AF
0.65723464 (AFR)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019227
ClinVar Variation:
17659
dbSNP:
1800592
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.140572807T>C , CM000666.2:g.140572807T>C
GRCh38
NC_000004.11:g.141493961T>C , CM000666.1:g.141493961T>C
GRCh37
NC_000004.10:g.141713411T>C
NCBI36
NG_012139.1:g.999A>G
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