ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002747
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
474891
ClinVar RCV Id:
RCV000545827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Lys576Gln
CA397725580
NM_001270447.2:c.1726A>C