Canonical Allele Identifier: PA2825241320
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2150802
ClinVar RCV Id: RCV003067752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Lys101Asn
CA406005390
NM_000709.4:c.303G>C
CA406005392
NM_000709.4:c.303G>T