ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139685905
Gene: PDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
978592
ClinVar RCV Id:
RCV001257311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000916.2:p.Trp165Ser
CA353361337
NM_000925.4:c.494G>C