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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:
PA645460000
Gene: STK11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419151
ClinVar RCV Id:
RCV000479740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000446.1:p.Ala397Glu
CA16620759
NM_000455.5:c.1190C>A