ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA990116118
Gene:
Linked Data
dbSNP Id:
rs2070490306
gnomAD v3:
18-49001513-T-C
gnomAD v4:
18-49001513-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001513T>C , CM000680.2:g.49001513T>C
GRCh38
NC_000018.9:g.46527883T>C , CM000680.1:g.46527883T>C
GRCh37
NC_000018.8:g.44781881T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'