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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:
PA2827744929
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_001340851.1:p.Gly62Ala
CA255660
NM_001353922.2:c.185G>C