ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829714354
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
853657
ClinVar RCV Id:
RCV001058511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Thr436Asn
CA390306095
NM_007318.3:c.1307C>A