ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825374641
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000185719
RCV000675110
ClinVar Variation:
203579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029031.1:p.Arg344Cys
CA312264
NM_001033859.2:c.1030C>T