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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:
PA2828589857
Gene: EBF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1701822
ClinVar RCV Id:
RCV002275710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362319.1:p.Arg163Gly
CA378910580
NM_001375390.1:c.487C>G