ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827026627
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
846897
ClinVar RCV Id:
RCV001050318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305904.1:p.His136Pro
CA364658120
NM_001318975.1:c.407A>C