Canonical Allele Identifier: PA221221
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93375
ClinVar RCV Id: RCV000079257 RCV000179337 RCV001275916
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Ala285Pro
CA221220
NM_000709.4:c.853G>C