ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915988939
Gene: BCKDHA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001158255.1:p.Ala220Val
NM_001164783.2:c.659C>T