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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:
PA2828743296
Gene: ROBO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
346700
ClinVar RCV Id:
RCV000279187
RCV001486244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365120.1:p.Arg831Gln
CA2497329
NM_001378191.1:c.2492G>A