Canonical Allele Identifier: PA2829713885
Gene: PSEN1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Phe101Cys
CA16043483
NM_007318.3:c.302T>G