ClinGen Allele Registry
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Canonical Allele Identifier:
PA915953560
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000116020
RCV000586231
RCV000790910
RCV001005035
RCV001549277
RCV001798357
RCV003387765
RCV004529942
ClinVar Variation:
128077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005735.1:p.Ile203Met
CA288312
NM_001005735.2:c.609A>G