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: PA2829713832

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315928

ClinVar RCV Id: RCV001757375

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Thr70Ile	CA390303037 NM_007318.3:c.209C>T