Canonical Allele Identifier: PA916028237
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_001317469.1:p.Val78Leu
CA10610331
NM_001330540.2:c.232G>T
CA340132437
NM_001330540.2:c.232G>C