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: PA2829714331

Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98110

ClinVar RCV Id: RCV000084408

ClinVar Variation Id: 845851

ClinVar RCV Id: RCV001049005 RCV002282436

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_015557.2:p.Leu414Phe	CA225175 NM_007318.3:c.1242G>T CA390305963 NM_007318.3:c.1242G>C