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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:
PA2825416584
Gene: PLEKHG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1019
ClinVar RCV Id:
RCV000001074
RCV000790140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036129.1:p.Phe647Ser
CA114710
NM_001042664.1:c.1940T>C