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: PA2829710375

Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807409

ClinVar RCV Id: RCV002475366

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_036618.2:p.Leu398Phe	CA345044586 NM_012486.3:c.1194G>C CA345044591 NM_012486.3:c.1194G>T