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: PA2826822622

Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 893

ClinVar RCV Id: RCV000000941

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001280034.1:p.Ala400Val	CA339838 NM_001293105.2:c.1199C>T