ClinGen Allele Registry
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Canonical Allele Identifier:
CA251295654
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.69345267C>A
GRCh37
chr13:g.69919399C>A
Linked Data - Sequence & Population
gnomAD v2:
13:69919399 C / A
gnomAD v3:
13:69345267 C / A
gnomAD v4:
chr13-69345267-C-A
Joint Max Group AF
0.99348279 (NFE)
Genomes Max Group AF
0.99348279 (NFE)
Linked Data - NCBI & NCI
dbSNP:
2593525
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.69345267C>A , CM000675.2:g.69345267C>A
GRCh38
NC_000013.10:g.69919399C>A , CM000675.1:g.69919399C>A
GRCh37
NC_000013.9:g.68817400C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'