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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:
PA2826444761
Gene: CHEK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410015
ClinVar RCV Id:
RCV000566309
RCV000475251
RCV001528284
RCV003114586
RCV003483626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244316.1:p.Tyr169Cys
CA16616553
NM_001257387.2:c.506A>G