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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:
PA2826485122
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1411968
ClinVar RCV Id:
RCV001923010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001252521.2:p.Tyr173Cys
CA17243754
NM_001265592.2:c.518A>G