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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:
PA2825794698
Gene: GLB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2151971
ClinVar RCV Id:
RCV003079045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129074.2:p.Tyr460His
CA2299298
NM_001135602.3:c.1378T>C