ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024161
Gene: BCKDHB
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001305904.1:p.Glu93Ter
NM_001318975.1:c.277G>T