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: PA2579817810

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 843242

ClinVar RCV Id: RCV001045816 RCV002363595

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000305.3:p.Arg233Gly	CA377484877 NM_000314.7:c.697C>G CA891839612 NM_000314.7:c.697_699delinsGGT