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: PA225036

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98035

ClinVar RCV Id: RCV000084319

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Trp165Gly	CA225035 NM_000021.3:c.493T>G