ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA341528
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21028
ClinVar RCV Id:
RCV000712874
RCV000818883
RCV000020086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Met233Val
CA341527
NM_000021.3:c.697A>G