Canonical Allele Identifier: PA2827322317
Gene: MMACHC HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317469.1:p.Met17Ile
CA827666
NM_001330540.2:c.51G>C
CA827667
NM_001330540.2:c.51G>T
CA340131915
NM_001330540.2:c.51G>A