Allele Registry

Canonical Allele Identifier: PA658743529

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000585794

RCV003323623

RCV003465319

ClinVar Variation:

495216

HGVS (amino-acid)	Matching Registered Transcripts
NP_056321.2:p.Leu53Pro	CA827654 NM_015506.3:c.158T>C