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: PA2830393565

Gene: PIK3R1 HGNC NCBI

Linked Data

ClinVar Variation Id: 376262

ClinVar RCV Id: RCV000443639

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_852556.2:p.Thr306del	CA16602711 NM_181504.4:c.917_919del