ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115516
Gene: BCKDHA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000700.1:p.Gly249Ser
NM_000709.4:c.745G>A