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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:
PA354924
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224057
ClinVar RCV Id:
RCV000209790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000047.1:p.Met1Ile