Allele Registry

Canonical Allele Identifier: PA3081450130

Gene: PSEN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ser43Arg	CA390302551 NM_000021.3:c.127A>C CA390302557 NM_000021.3:c.129C>A CA390302558 NM_000021.3:c.129C>G