ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658721415
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000579658
RCV001211302
ClinVar Variation:
489883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009125.1:p.Arg180Leu
CA411107218
NM_007194.4:c.539G>T