Canonical Allele Identifier: PA645474404
Gene: PSEN1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Phe105Cys
CA16043483
NM_000021.3:c.314T>G