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: PA2579817193

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 960928

ClinVar RCV Id: RCV001234539

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000305.3:p.Val175Leu	CA377484318 NM_000314.7:c.523G>C CA377484319 NM_000314.7:c.523G>T