ClinGen Allele Registry
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Canonical Allele Identifier:
PA645499199
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_009125.1:p.Val395Phe
CA16603152
NM_007194.4:c.1183G>T