Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827322557

Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 558321

ClinVar RCV Id: RCV000674571

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317469.1:p.Arg149Pro	CA340133696 NM_001330540.2:c.446G>C