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: PA916020175

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 428268

ClinVar RCV Id: RCV000491643 RCV000536465 RCV003449278

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291647.1:p.Thr80Arg	CA377485523 NM_001304718.1:c.239C>G