ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091040
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
553167
ClinVar RCV Id:
RCV000668561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000009.1:p.Lys247Glu
CA397723573
NM_000018.4:c.739A>G