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: PA2829714253

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1981356

ClinVar RCV Id: RCV002780497

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Met288Ile	CA390304703 NM_007318.3:c.864G>A CA390304706 NM_007318.3:c.864G>C CA390304708 NM_007318.3:c.864G>T