Canonical Allele Identifier: PA2573159728
Gene: PSEN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Leu250Phe
CA390299884
NM_000021.3:c.750G>C
CA390299886
NM_000021.3:c.750G>T