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: PA114712

Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019

ClinVar RCV Id: RCV000001074 RCV000790140

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_065682.2:p.Phe647Ser	CA114710 NM_020631.6:c.1940T>C