ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826088259
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488569
ClinVar RCV Id:
RCV000578359
RCV001824834
RCV001091316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166926.1:p.Asn171Ser
CA412393370
NM_001173455.2:c.512A>G