Canonical Allele Identifier: PA3081604075
Gene: PSEN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Thr122Ser
CA390304744
NM_000021.3:c.364A>T
CA390304747
NM_000021.3:c.365C>G