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: PA2829714324

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98109

ClinVar RCV Id: RCV000084406 RCV000811198

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ala405Thr	CA225173 NM_007318.3:c.1213G>A