Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827476993

Gene: CHEK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 818397

ClinVar RCV Id: RCV001009953 RCV001836932 RCV001860620

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336885.1:p.Thr311Ser	CA411096985 NM_001349956.2:c.932C>G CA411097001 NM_001349956.2:c.931A>T