Canonical Allele Identifier: PA916028236
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 377366
ClinVar RCV Id: RCV000434552 RCV001833515 RCV002524741
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317469.1:p.Arg75Gln
CA827724
NM_001330540.2:c.224G>A