ClinGen Allele Registry
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Canonical Allele Identifier:
CA34081490
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr1:g.186671393T>C
GRCh37
chr1:g.186640525T>C
Linked Data - Sequence & Population
gnomAD v2:
1:186640525 T / C
gnomAD v3:
1:186671393 T / C
gnomAD v4:
chr1-186671393-T-C
Joint Max Group AF
0.03225654 (NFE)
Genomes Max Group AF
0.03225654 (NFE)
Linked Data - NCBI & NCI
dbSNP:
4648310
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186671393T>C , CM000663.2:g.186671393T>C
GRCh38
NC_000001.10:g.186640525T>C , CM000663.1:g.186640525T>C
GRCh37
NC_000001.9:g.184907148T>C
NCBI36
NG_028206.2:g.14035A>G
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