ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825241662
Gene: BCKDHA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000700.1:p.Ala248Val
CA308524255
NM_000709.4:c.743C>T