Allele Registry

Canonical Allele Identifier: PA1139723994

Gene: PSEN2 HGNC NCBI

ClinVar RCV:

RCV001097459

RCV001097460

ClinVar Variation:

874475

HGVS (amino-acid)	Matching Registered Transcripts
NP_036618.2:p.Phe243Leu	CA1424618 NM_012486.3:c.729C>G CA345040749 NM_012486.3:c.727T>C CA345040761 NM_012486.3:c.729C>A