Canonical Allele Identifier: PA2573265250
Gene: MMADHC HGNC NCBI
ClinVar Allele:
1509844
ClinVar RCV:
RCV001892458
ClinVar Variation:
1383248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056517.1:p.Val25Leu
CA58333608
NM_015702.3:c.73G>C