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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:
PA2828744639
Gene: ROBO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224346
ClinVar RCV Id:
RCV000416566
RCV001290213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001365126.1:p.Ala112Val