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: PA2825416974

Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 468914

ClinVar RCV Id: RCV000525735

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001036130.1:p.Phe138Leu