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: PA2573068193

Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 245844

ClinVar RCV Id: RCV000236440

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001252522.1:p.Thr678Lys	CA10584153 NM_001265593.1:c.2033C>A