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: PA645474404

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374134

ClinVar RCV Id: RCV000415024

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Phe105Cys	CA16043483 NM_000021.3:c.314T>G