ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741954416
Gene: MMACHC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003497071
ClinVar Variation:
2725295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056321.2:p.Met1Leu