ClinGen Allele Registry
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Canonical Allele Identifier:
CA14740439
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr19:g.43670636C>T
GRCh37
chr19:g.44174788C>T
Linked Data - Sequence & Population
gnomAD v2:
19:44174788 C / T
gnomAD v3:
19:43670636 C / T
gnomAD v4:
chr19-43670636-C-T
Joint Max Group AF
0.91859899 (AFR)
Genomes Max Group AF
0.91855913 (AFR)
Exomes Max Group AF
0.75292591 (AFR)
Linked Data - NCBI & NCI
dbSNP:
344781
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.43670636C>T , CM000681.2:g.43670636C>T
GRCh38
NC_000019.9:g.44174788C>T , CM000681.1:g.44174788C>T
GRCh37
NC_000019.8:g.48866628C>T
NCBI36
NG_032898.1:g.4711G>A
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