ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002633
Gene: ACADVL
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001257376.1:p.Trp450Ter
NM_001270447.2:c.[1344del;1346C>G;1349G>T...
NM_001270447.2:c.1349G>A
NM_001270447.2:c.1350G>A
NM_001270447.2:c.1350_1351del