ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099054
Gene: MMADHC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000799
RCV001378885
RCV001844002
RCV002251849
ClinVar Variation:
763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056517.1:p.Tyr249Cys
CA114488
NM_015702.3:c.746A>G