Allele Registry

Canonical Allele Identifier: PA091181

Gene: PSEN1 HGNC NCBI

ClinVar RCV:

RCV000019767

RCV000084311

RCV001854473

RCV004525816

ClinVar Variation:

18137

98029

3233284

HGVS (amino-acid)	Matching Registered Transcripts
NP_000012.1:p.Met146Ile	CA225023 NM_000021.3:c.438G>T CA258121 NM_000021.3:c.438G>A CA390305025 NM_000021.3:c.438G>C