Canonical Allele Identifier: PA1139697242
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 203833
ClinVar RCV Id: RCV000186033 RCV000641155 RCV003407684
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317469.1:p.Tyr73del
CA312739
NM_001330540.2:c.217_219del