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: PA2829714353

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98116

ClinVar RCV Id: RCV000084415 RCV002470762

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ile435Val	CA225187 NM_007318.3:c.1303A>G