Allele Registry

Canonical Allele Identifier: PA2827322449

Gene: MMACHC HGNC NCBI

ClinVar RCV:

RCV000664859

RCV001101235

RCV001573125

RCV001804923

RCV002252032

RCV002513959

ClinVar Variation:

203830

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Phe101Leu	CA312734 NM_001330540.2:c.301T>C CA340133136 NM_001330540.2:c.303T>A CA340133138 NM_001330540.2:c.303T>G