Allele Registry

Canonical Allele Identifier: PA224986

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000084283

ClinVar Variation:

98006

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Ile83_Met84del	CA224985 NM_000021.3:c.247_252del