ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825140248
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2584444
ClinVar RCV Id:
RCV003335884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Glu206Lys
CA412394279
NM_000284.4:c.616G>A