Canonical Allele Identifier: PA2829714161
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21028
ClinVar RCV Id: RCV000712874 RCV000818883 RCV000020086
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Met229Val
CA341527
NM_007318.3:c.685A>G