ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645419705
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390609
ClinVar RCV Id:
RCV000429032
RCV000675115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_898871.1:p.Val213Phe
CA16604994
NM_183050.3:c.637G>T