ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499277247
Gene: DMGDH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037523.2:p.Ser279Pro
CA3318870
NM_013391.3:c.835T>C