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: PA2826485944

Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 246293

ClinVar RCV Id: RCV000236140

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001252522.1:p.Arg253His	CA561812 NM_001265593.1:c.758G>A