Canonical Allele Identifier: PA1139668257
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 841495
ClinVar RCV Id: RCV001043730
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Thr90Ser
CA262614455
NM_000021.3:c.269C>G
CA390303328
NM_000021.3:c.268A>T