Canonical Allele Identifier: PA150767
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 120170
ClinVar RCV Id: RCV000106293 RCV000625969 RCV003764803
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Leu381Phe
CA150766
NM_000021.3:c.1141C>T