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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830300111
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265327
ClinVar RCV Id:
RCV000255649
RCV001358222
RCV002518758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_665861.1:p.Ile157Ser
CA10588724
NM_145862.2:c.470T>G