Canonical Allele Identifier: PA645381449
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 297485
ClinVar RCV Id: RCV000315733 RCV000668614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056321.2:p.Val135Leu
CA10610331
NM_015506.3:c.403G>T
CA340132437
NM_015506.3:c.403G>C