ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829713896
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98016
ClinVar RCV Id:
RCV000084296
RCV002514493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Thr112Ile
CA225003
NM_007318.3:c.335C>T