ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741934192
Gene: PSEN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003619949
ClinVar Variation:
2782904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036618.2:p.Val208Ile
CA345040352
NM_012486.3:c.622G>A