Canonical Allele Identifier: PA091202
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 98005
ClinVar RCV Id: RCV000084282
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Val82Leu
CA224984
NM_000021.3:c.244G>C
CA390303183
NM_000021.3:c.244G>T