Canonical Allele Identifier: PA2829829118
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 875419
ClinVar RCV Id: RCV001099238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056321.2:p.Asn142Lys
CA21829382
NM_015506.3:c.426C>A
CA340132543
NM_015506.3:c.426C>G