Canonical Allele Identifier: PA091180
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18128
ClinVar RCV Id: RCV000019756 RCV000084304 RCV003764610
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Met139Val
CA225015
NM_000021.3:c.415A>G