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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:
PA2828307985
Gene: ARHGEF9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225050
ClinVar RCV Id:
RCV000210722
RCV001040965
RCV001786341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355966.1:p.Arg317Trp
CA358247
NM_001369037.1:c.949C>T