ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678956
Gene: PDHA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446251
ClinVar RCV Id:
RCV000523769
RCV001797092
RCV002221240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005381.1:p.Met227Val
CA3016298
NM_005390.5:c.679A>G