ClinGen Allele Registry
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Canonical Allele Identifier:
CA124195
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr10:g.6080046T>A
GRCh37
chr10:g.6122009T>A
Linked Data - Sequence & Population
gnomAD v2:
10:6122009 T / A
gnomAD v3:
10:6080046 T / A
gnomAD v4:
chr10-6080046-T-A
Joint Max Group AF
0.34176175 (MID)
Genomes Max Group AF
0.24938934 (NFE)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000015782
RCV003944825
ClinVar Variation:
14670
dbSNP:
11594656
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.6080046T>A , CM000672.2:g.6080046T>A
GRCh38
NC_000010.10:g.6122009T>A , CM000672.1:g.6122009T>A
GRCh37
NC_000010.9:g.6162015T>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'