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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:
PA2573170558
Gene: STK11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1517497
ClinVar RCV Id:
RCV002041100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000446.1:p.Asp194_Ala198del
CA2573155762
NM_000455.5:c.582_596del