ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091041
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137891
ClinVar RCV Id:
RCV003041270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000009.1:p.Lys247Thr
CA397723575
NM_000018.4:c.740A>C