Allele Registry

Canonical Allele Identifier: PA312748

Gene: MMADHC HGNC NCBI

ClinVar RCV:

RCV001035983

RCV001128927

ClinVar Variation:

203838

HGVS (amino-acid)	Matching Registered Transcripts
NP_056517.1:p.Val25Phe	CA312747 NM_015702.3:c.73G>T