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: PA2580115306

Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807409

ClinVar RCV Id: RCV002475366

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000438.2:p.Leu399Phe	CA345044586 NM_000447.3:c.1197G>C CA345044591 NM_000447.3:c.1197G>T