ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA990116140
Gene:
Linked Data
dbSNP Id:
rs2070490841
gnomAD v3:
18-49001677-C-T
gnomAD v4:
18-49001677-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.49001677C>T , CM000680.2:g.49001677C>T
GRCh38
NC_000018.9:g.46528047C>T , CM000680.1:g.46528047C>T
GRCh37
NC_000018.8:g.44782045C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'