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: PA091182

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18123

ClinVar RCV Id: RCV000019751 RCV001248367 RCV003105774

ClinVar Variation Id: 98028

ClinVar RCV Id: RCV000084310 RCV002247483

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met146Leu	CA225022 NM_000021.3:c.436A>T CA341490 NM_000021.3:c.436A>C