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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:
PA2828590509
Gene: CILK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
640
ClinVar RCV Id:
RCV000000672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362328.1:p.Arg272Gln
CA114374
NM_001375399.1:c.815G>A