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: PA2580102157

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1968278

ClinVar RCV Id: RCV002711664

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg41Ser	CA262614373 NM_000021.3:c.123A>C CA390302549 NM_000021.3:c.123A>T