ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827026737
Gene: BCKDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96562
ClinVar RCV Id:
RCV000082719
RCV000587204
RCV000674620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305904.1:p.Gly266Ser
CA224232
NM_001318975.1:c.796G>A