ClinGen Allele Registry
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Canonical Allele Identifier:
CA250450493
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.55410861C>G
GRCh37
chr13:g.55984996C>G
Linked Data - Sequence & Population
gnomAD v2:
13:55984996 C / G
gnomAD v3:
13:55410861 C / G
gnomAD v4:
chr13-55410861-C-G
Joint Max Group AF
0.00001972 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Linked Data - NCBI & NCI
dbSNP:
2315885
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.55410861C>G , CM000675.2:g.55410861C>G
GRCh38
NC_000013.10:g.55984996C>G , CM000675.1:g.55984996C>G
GRCh37
NC_000013.9:g.54882997C>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'