ClinGen Allele Registry
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Canonical Allele Identifier:
CA610032744
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.53490846G>C
GRCh37
chr13:g.54064981G>C
Linked Data - Sequence & Population
gnomAD v2:
13:54064981 G / C
gnomAD v3:
13:53490846 G / C
gnomAD v4:
chr13-53490846-G-C
Joint Max Group AF
0.00000802 (AFR)
Genomes Max Group AF
0.00000802 (AFR)
Linked Data - NCBI & NCI
dbSNP:
9568856
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.53490846G>C , CM000675.2:g.53490846G>C
GRCh38
NC_000013.10:g.54064981G>C , CM000675.1:g.54064981G>C
GRCh37
NC_000013.9:g.52962982G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'