Allele Registry

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.

Canonical Allele Identifier: PA2825794052

Gene: GLB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 931

ClinVar RCV Id: RCV000000979

ClinVar Variation Id: 568792

ClinVar RCV Id: RCV000689254 RCV000790561 RCV001584562 RCV002275106

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129074.2:p.Trp142Leu	CA114642 NM_001135602.3:c.425G>T CA891843340 NM_001135602.3:c.424_425delinsCT