Canonical Allele Identifier: PA2829713865
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21027
ClinVar RCV Id: RCV000084285 RCV000020083
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Val85Leu
CA224987
NM_007318.3:c.253G>T
CA390303309
NM_007318.3:c.253G>C