ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346142
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180253
ClinVar RCV Id:
RCV000157090
RCV000666003
RCV003422050
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Ile18Val
CA346141
NM_001270447.2:c.52A>G