ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825416824
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246359
ClinVar RCV Id:
RCV000236991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036129.1:p.Ala950Ser
CA10584152
NM_001042664.1:c.2848G>T