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: PA1139668223

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 887369

ClinVar RCV Id: RCV001120059 RCV001120060 RCV001856575

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Arg42Gln	CA7256686 NM_000021.3:c.125G>A