ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826004320
Gene: BCKDHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100009
ClinVar RCV Id:
RCV000002473
RCV000079229
RCV000055825
RCV002514533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158255.1:p.Tyr437Asn
CA115507
NM_001164783.2:c.1309T>A