Canonical Allele Identifier: PA916028234
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 552495
ClinVar RCV Id: RCV000667767

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317469.1:p.Arg75del
CA251787
NM_001330540.2:c.223C>T
CA522810655
NM_001330540.2:c.224_226del