Canonical Allele Identifier: PA2829713887
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98012
ClinVar RCV Id: RCV000084291
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Phe101Leu
CA224997
NM_007318.3:c.303T>G
CA390303576
NM_007318.3:c.301T>C
CA390303586
NM_007318.3:c.303T>A