ClinGen Allele Registry
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Canonical Allele Identifier:
CA6995281
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.54311970G>C
GRCh37
chr13:g.54886105G>C
Linked Data - Sequence & Population
gnomAD v2:
13:54886105 G / C
gnomAD v3:
13:54311970 G / C
gnomAD v4:
chr13-54311970-G-C
Joint Max Group AF
0.36029816 (AFR)
Genomes Max Group AF
0.35849561 (AFR)
Exomes Max Group AF
0.36004071 (AFR)
Linked Data - NCBI & NCI
dbSNP:
10162244
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.54311970G>C , CM000675.2:g.54311970G>C
GRCh38
NC_000013.10:g.54886105G>C , CM000675.1:g.54886105G>C
GRCh37
NC_000013.9:g.53784106G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'