ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829629966
Gene: MDH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005908.1:p.Asp256Asn
CA1682905
NM_005917.4:c.766G>A