ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826004183
Gene: BCKDHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3232228
ClinVar RCV Id:
RCV004520911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158255.1:p.Gly281Ser
CA9461270
NM_001164783.2:c.841G>A