Canonical Allele Identifier: PA645381424
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 297484
ClinVar RCV Id: RCV000260401 RCV000504286 RCV001074563 RCV001582921 RCV003417958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056321.2:p.Tyr130Cys
CA827721
NM_015506.3:c.389A>G