Canonical Allele Identifier: PA2829714182
Gene: PSEN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Leu246Phe
CA390299884
NM_007318.3:c.738G>C
CA390299886
NM_007318.3:c.738G>T