ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825039398
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370949
ClinVar RCV Id:
RCV000410485
RCV001828375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000047.1:p.Ala137Val
CA3902601
NM_000056.5:c.410C>T