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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:
PA2825794736
Gene: GLB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2097996
ClinVar RCV Id:
RCV003019086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129074.2:p.Leu488Met
CA352000542
NM_001135602.3:c.1462C>A