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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:
PA189559
Gene: STK11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184646
ClinVar RCV Id:
RCV000163934
RCV000234273
RCV000486365
RCV000657114
RCV001262270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000446.1:p.Ala398Val
CA022442
NM_000455.5:c.1193C>T