ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099040
Gene: MMADHC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000798
ClinVar Variation:
762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056517.1:p.Thr182Asn
CA114487
NM_015702.3:c.545C>A