ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645445123
Gene: MDH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005909.2:p.Pro207Leu
CA16044163
NM_005918.4:c.620C>T