Canonical Allele Identifier: PA916006928
Gene: PSEN2 HGNC NCBI
ClinVar RCV:
RCV000172100
ClinVar Variation:
191772
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_036618.2:p.Ala237Val
CA237505
NM_012486.3:c.710C>T