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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000385948.1:p.Ser49Arg
CA390304955
ENST00000406768.1:c.145A>C
CA390304967
ENST00000406768.1:c.147T>A
CA390304968
ENST00000406768.1:c.147T>G