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: PA1139691376

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 960928

ClinVar RCV Id: RCV001234539

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291646.4:p.Val348Leu	CA377484318 NM_001304717.5:c.1042G>C CA377484319 NM_001304717.5:c.1042G>T