ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830302000
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
363625
ClinVar RCV:
RCV000422650
RCV000990387
ClinVar Variation:
376746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Val366Phe
CA16603152
NM_145862.2:c.1096G>T