ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826516427
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
582635
ClinVar RCV Id:
RCV000706755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257377.1:p.Ser347Leu
CA397724731
NM_001270448.2:c.1040C>T