×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825415455
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234903
ClinVar RCV Id:
RCV000222151
RCV000797810
RCV002381755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036128.2:p.Ile361Thr
CA561699
NM_001042663.3:c.1082T>C