Canonical Allele Identifier: PA645475236
Gene: ACADVL HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000009.1:p.Trp427Ter
NM_000018.4:c.[1275del;1277C>G;1280G>T]

NM_000018.4:c.1280G>A

NM_000018.4:c.1281G>A

NM_000018.4:c.1281_1282del