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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000452242.1:p.Ser43Arg
CA390302551
ENST00000553855.5:c.127A>C
CA390302557
ENST00000553855.5:c.129C>A
CA390302558
ENST00000553855.5:c.129C>G