Canonical Allele Identifier: PA645381416
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 297483
ClinVar RCV Id: RCV000359909 RCV002520496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056321.2:p.Arg112Cys
CA827706
NM_015506.3:c.334C>T