ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573068112
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
297953
ClinVar RCV Id:
RCV000345713
RCV000645417
RCV001088203
RCV002411190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252522.1:p.Arg697Lys
CA561326
NM_001265593.1:c.2090G>A