Allele Registry

Canonical Allele Identifier: PA916028226

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000001487

RCV002512644

ClinVar Variation:

1422

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Leu59Pro	CA251786 NM_001330540.2:c.176T>C