ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953757
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141977
ClinVar RCV Id:
RCV000130733
RCV000198345
RCV000515236
RCV000589669
RCV000855592
RCV001356295
RCV002225433
RCV004532565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Asn229His
CA294225
NM_001005735.2:c.685A>C