ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827322462
Gene: MMACHC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001004154
ClinVar Variation:
813351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317469.1:p.Arg104Gly
CA340133167
NM_001330540.2:c.310C>G