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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:
PA2828307268
Gene: ARHGEF9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11049
ClinVar RCV Id:
RCV000011796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355964.1:p.Gly34Ala
CA255660
NM_001369035.1:c.101G>C