ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA290942362
Gene:
Linked Data
dbSNP Id:
rs187342642
gnomAD v2:
17-42449384-C-T
gnomAD v3:
17-44372016-C-T
gnomAD v4:
17-44372016-C-T
MyVariant Identifiers:
chr17:g.42449384C>T (hg19)
chr17:g.44372016C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.44372016C>T , CM000679.2:g.44372016C>T
GRCh38
NC_000017.10:g.42449384C>T , CM000679.1:g.42449384C>T
GRCh37
NC_000017.9:g.39804910C>T
NCBI36
NG_008331.1:g.22490G>A , LRG_479:g.22490G>A
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