ClinGen Allele Registry
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Canonical Allele Identifier:
CA15898144
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.48993712C>T
GRCh37
chr17:g.47071074C>T
Linked Data - Sequence & Population
gnomAD v2:
17:47071074 C / T
gnomAD v3:
17:48993712 C / T
gnomAD v4:
chr17-48993712-C-T
Joint Max Group AF
0.4528184 (AMR)
Genomes Max Group AF
0.4528184 (AMR)
Linked Data - NCBI & NCI
dbSNP:
2411759
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.48993712C>T , CM000679.2:g.48993712C>T
GRCh38
NC_000017.10:g.47071074C>T , CM000679.1:g.47071074C>T
GRCh37
NC_000017.9:g.44426073C>T
NCBI36
NG_030585.1:g.1301C>T
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