Canonical Allele Identifier: PA915953940
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 657317
ClinVar RCV Id: RCV000813898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Val208Leu
CA7256794
NM_000021.3:c.622G>T
CA390299389
NM_000021.3:c.622G>C