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: PA2826301756

Gene: PIK3R1 HGNC NCBI

Linked Data

ClinVar Variation Id: 996076

ClinVar RCV Id: RCV001290354 RCV002221158

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001229395.1:p.Gln216_Tyr217del	CA3290466 NM_001242466.2:c.646_651del CA645556628 NM_001242466.2:c.648_650del