Allele Registry

Canonical Allele Identifier: PA2827322559

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000490478

ClinVar Variation:

203832

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Arg149Trp	CA312738 NM_001330540.2:c.445C>T