Canonical Allele Identifier: PA2573269670
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 1524960
ClinVar RCV Id: RCV002032102

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056321.2:p.Pro18Leu
CA21825952
NM_015506.3:c.53C>T