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: PA2580102240

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1981356

ClinVar RCV Id: RCV002780497

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met292Ile	CA390304703 NM_000021.3:c.876G>A CA390304706 NM_000021.3:c.876G>C CA390304708 NM_000021.3:c.876G>T