ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA110100
Gene: PSEN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009394
RCV000084265
ClinVar Variation:
8846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000438.2:p.Met239Val
CA224957
NM_000447.3:c.715A>G