ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580541012
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2300660
ClinVar RCV Id:
RCV002883034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898871.1:p.Pro60Leu
CA142276839
NM_183050.3:c.179C>T