Canonical Allele Identifier: PA916028238
Gene: MMACHC HGNC NCBI

Linked Data

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001317469.1:p.Trp83Ter
NM_001330540.2:c.248G>A

NM_001330540.2:c.249G>A