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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:
PA2828743650
Gene: ROBO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1901997
ClinVar RCV Id:
RCV002572676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365122.1:p.Arg79Trp
CA2496672
NM_001378193.1:c.235C>T