ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2366180146
Gene:
Linked Data
dbSNP Id:
rs1988120078
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.45351942C>T , CM000682.2:g.45351942C>T
GRCh38
NC_000020.10:g.43980582C>T , CM000682.1:g.43980582C>T
GRCh37
NC_000020.9:g.43413996C>T
NCBI36
Search 100 bp 5'
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