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: PA2827250240

Gene: PAK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 11570

ClinVar RCV Id: RCV000012326 RCV003162241

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001311257.1:p.Ala380Glu	CA121583 NM_001324328.2:c.1139C>A