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: PA2579818385

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 1440481

ClinVar RCV Id: RCV001936894 RCV002442916

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000305.3:p.Glu285Asp	CA377485611 NM_000314.7:c.855A>C CA377485614 NM_000314.7:c.855A>T