ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741850250
Gene: ACADVL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Arg473Cys
CA287439664
NM_001270447.2:c.1417C>T