ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024160
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96583
ClinVar RCV Id:
RCV000179044
RCV003317084
RCV002514448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305904.1:p.Ile90Ser
CA224280
NM_001318975.1:c.269T>G