ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099027
Gene: MMADHC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000000797
RCV003147271
ClinVar Variation:
761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056517.1:p.Leu259Pro
CA114486
NM_015702.3:c.776T>C