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: PA2826822382

Gene: GUSB HGNC NCBI

Linked Data

ClinVar Variation Id: 897

ClinVar RCV Id: RCV000000945

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001280033.1:p.Arg421Trp	CA339841 NM_001293104.2:c.1261C>T