Canonical Allele Identifier: PA3081290075
Gene: PSEN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Glu71Asp
CA262614421
NM_000021.3:c.213G>C
CA390302984
NM_000021.3:c.213G>T