Canonical Allele Identifier: PA2573172088
Gene: BCKDHA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Glu327Asp
CA406013517
NM_000709.4:c.981G>C
CA406013518
NM_000709.4:c.981G>T