Allele Registry

Canonical Allele Identifier: PA645381324

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000440436

RCV000666093

RCV001272215

ClinVar Variation:

381577

HGVS (amino-acid)	Matching Registered Transcripts
NP_056321.2:p.Met1Val