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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
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Canonical Allele Identifier:
PA2830457659
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_941374.3:p.Ile324Thr
CA561699
NM_198681.4:c.971T>C