Canonical Allele Identifier: PA091181
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18137
ClinVar RCV Id: RCV000019767
ClinVar Variation Id: 98029
ClinVar RCV Id: RCV000084311 RCV001854473
ClinVar Variation Id: 3233284
ClinVar RCV Id: RCV004525816
JSON-LD

Amino-acid Alleles

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