ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825588342
Gene: BCKDK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198833
ClinVar RCV Id:
RCV000180288
RCV001852244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116429.1:p.Ile231Thr
CA247671
NM_001122957.4:c.692T>C