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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514938.1:p.Met146Ile
CA225023
ENST00000700311.1:c.438G>T
CA258121
ENST00000700311.1:c.438G>A
CA390305025
ENST00000700311.1:c.438G>C