Canonical Allele Identifier: PA238431
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 192129
ClinVar RCV Id: RCV000172586 RCV001852098 RCV003416064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Gly70Arg
CA238430
NM_000447.3:c.208G>A
CA345329606
NM_000447.3:c.208G>C