ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002421
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180089
RCV000723371
RCV002515289
ClinVar Variation:
198683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Ala236Thr
CA275413
NM_001270447.2:c.706G>A