×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA203853
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202188
ClinVar RCV Id:
RCV000184034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Arg141Gln
CA203852
NM_000284.4:c.422G>A