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: PA2829700203

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_009125.1:p.Thr378Ser	CA411096985 NM_007194.4:c.1133C>G CA411097001 NM_007194.4:c.1132A>T