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: PA2829713835

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18157

ClinVar RCV Id: RCV000529477 RCV000019787 RCV000084281

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Ala75Val	CA224983 NM_007318.3:c.224C>T