Canonical Allele Identifier: PA2573159720
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1582098
ClinVar RCV Id: RCV002088756 RCV003007081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Pro49Ala
CA7256689
NM_000021.3:c.145C>G