Canonical Allele Identifier: PA110319
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 100009
ClinVar RCV Id: RCV000002473 RCV000079229 RCV000055825 RCV002514533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Tyr438Asn
CA115507
NM_000709.4:c.1312T>A