Canonical Allele Identifier: PA2825005020
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 957406
ClinVar RCV Id: RCV001230382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Val103Gly
CA390303543
NM_000021.3:c.308T>G