ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA107490
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10890
ClinVar RCV Id:
RCV000011637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Arg288His
CA121226
NM_000284.4:c.863G>A