Canonical Allele Identifier: PA1139668388
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 965986
ClinVar RCV Id: RCV001240561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Asp345Gly
CA262618707
NM_000021.3:c.1034A>G