ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA091152
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18143
ClinVar RCV Id:
RCV000019773
RCV000518563
RCV000640609
RCV002482890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Gly206Ala
CA258122
NM_000021.3:c.617G>C