Allele Registry

Canonical Allele Identifier: PA916028242

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000186028

RCV000262040

RCV000576585

RCV001027895

RCV001273224

RCV002517827

ClinVar Variation:

203828

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Gly90Ala	CA312732 NM_001330540.2:c.269G>C