ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA187589440
Gene:
Linked Data
dbSNP Id:
rs997353305
gnomAD v3:
8-143611719-T-C
gnomAD v4:
8-143611719-T-C
MyVariant Identifiers:
chr8:g.144693889T>C (hg19)
chr8:g.143611719T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.143611719T>C , CM000670.2:g.143611719T>C
GRCh38
NC_000008.10:g.144693889T>C , CM000670.1:g.144693889T>C
GRCh37
NC_000008.9:g.144765032T>C
NCBI36
NG_051357.1:g.2896A>G
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