ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825039592
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426394
ClinVar RCV Id:
RCV000490228
RCV003144286
RCV001829397
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000047.1:p.Ile390Val
CA3902860
NM_000056.5:c.1168A>G