ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580173247
Gene: MDH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186040.1:p.Asp274Asn
CA1682905
NM_001199111.2:c.820G>A