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: PA2826896443

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 490117

ClinVar RCV Id: RCV000580950

ClinVar Variation Id: 1068214

ClinVar RCV Id: RCV001379693

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291646.4:p.Leu198Phe	CA377782046 NM_001304717.5:c.594G>C CA377782047 NM_001304717.5:c.594G>T