Allele Registry

Canonical Allele Identifier: PA2827322591

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000081744

RCV000272939

RCV001275218

ClinVar Variation:

95707

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Lys163del	CA223197 NM_001330540.2:c.487_489del