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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:
PA2573064959
Gene: GLB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
800730
ClinVar RCV Id:
RCV000984877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073279.2:p.Glu99Gln
CA72670809
NM_001079811.3:c.295G>C