ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826088294
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
481438
ClinVar RCV:
RCV000578439
ClinVar Variation:
488570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166926.1:p.Leu186Arg
CA412393934
NM_001173455.2:c.557T>G