ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829714266
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98094
ClinVar RCV Id:
RCV000084390
RCV000172776
RCV000242303
RCV000290884
RCV000382419
RCV000559984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_015557.2:p.Glu314Gly
CA225145
NM_007318.3:c.941A>G