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: PA2741809060

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2951218

ClinVar RCV Id: RCV003802480

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Phe86Leu	CA390303259 NM_000021.3:c.256T>C CA390303271 NM_000021.3:c.258T>A CA390303273 NM_000021.3:c.258T>G