ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066526739
Gene: MMADHC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056517.1:p.Tyr249Phe
CA348869336
NM_015702.3:c.746A>T