Canonical Allele Identifier: PA224947
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 97995
ClinVar RCV Id: RCV000084258 RCV000172777 RCV000283560 RCV000641029 RCV001664396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Arg62His
CA224946
NM_000447.3:c.185G>A