ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2380815556
Gene:
Linked Data
dbSNP Id:
rs1988810795
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.20448105C>T , CM000683.2:g.20448105C>T
GRCh38
NC_000021.8:g.21820417C>T , CM000683.1:g.21820417C>T
GRCh37
NC_000021.7:g.20742288C>T
NCBI36
Search 100 bp 5'
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