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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:
PA658666851
Gene: SIK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476098
ClinVar RCV Id:
RCV000558419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775490.2:p.Pro698Leu
CA321324477
NM_173354.5:c.2093C>T