Canonical Allele Identifier: PA2825241735
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 652667

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Phe263Leu
CA308524322
NM_000709.4:c.787T>C
CA406012955
NM_000709.4:c.789C>A
CA406012956
NM_000709.4:c.789C>G