ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496708
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229673
ClinVar RCV Id:
RCV000220600
RCV002518231
ClinVar Variation Id:
483400
ClinVar RCV Id:
RCV000568904
RCV001858289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Ser31_Gly37dup