ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827478534
Gene: CHEK2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
181091
ClinVar RCV:
RCV000160440
RCV000205886
RCV000213437
RCV001356202
RCV002265635
ClinVar Variation:
182440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336885.1:p.Glu434Lys
CA299092
NM_001349956.2:c.1300G>A