ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825276788
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479583
ClinVar RCV Id:
RCV000566204
RCV000697949
RCV002281112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Asn105His
CA322998553
NM_001005735.2:c.313A>C