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: PA2829713955

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_015557.2:p.Met142Leu	CA225022 NM_007318.3:c.424A>T CA341490 NM_007318.3:c.424A>C