Canonical Allele Identifier: PA099040
Gene: MMADHC HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056517.1:p.Thr182Asn
CA114487
NM_015702.3:c.545C>A