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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:
PA1139757993
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
992181
ClinVar RCV Id:
RCV001280515
RCV003323846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898871.1:p.Pro27Ser
CA3902490
NM_183050.3:c.79C>T