ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829713915
Gene: PSEN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001938686
ClinVar Variation:
1428967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Thr120Ala
CA7256725
NM_007318.3:c.358A>G