ClinGen Allele Registry
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Canonical Allele Identifier:
CA14380851
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.51152947T>C
GRCh37
chr17:g.49230308T>C
Linked Data - Sequence & Population
gnomAD v2:
17:49230308 T / C
gnomAD v3:
17:51152947 T / C
gnomAD v4:
chr17-51152947-T-C
Joint Max Group AF
0.39785473 (AMR)
Genomes Max Group AF
0.39785473 (AMR)
Linked Data - NCBI & NCI
dbSNP:
16949649
2151350525
2151350527
2151350532
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.51152947T>C , CM000679.2:g.51152947T>C
GRCh38
NC_000017.10:g.49230308T>C , CM000679.1:g.49230308T>C
GRCh37
NC_000017.9:g.46585307T>C
NCBI36
NG_021169.1:g.4389T>C
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