Canonical Allele Identifier: PA091188
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98080
ClinVar RCV Id: RCV000084370 RCV000415376 RCV001387954
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Pro264Leu
CA225117
NM_000021.3:c.791C>T