ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826516552
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203585
ClinVar RCV Id:
RCV000185726
RCV000414939
RCV000412089
RCV002516958
RCV003407682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257377.1:p.Arg383Gln
CA312275
NM_001270448.2:c.1148G>A