Canonical Allele Identifier: PA916028225
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 297483
ClinVar RCV Id: RCV000359909 RCV002520496
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317469.1:p.Arg55Cys
CA827706
NM_001330540.2:c.163C>T