Canonical Allele Identifier: PA916028230
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_001317469.1:p.Tyr73Cys
CA827721
NM_001330540.2:c.218A>G