Canonical Allele Identifier: PA2825039285
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2328927
ClinVar RCV Id: RCV002940010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Val4Leu
CA364657874
NM_000056.5:c.10G>T
CA364657876
NM_000056.5:c.10G>C