ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825375039
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2174501
ClinVar RCV Id:
RCV002587929
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029031.1:p.Arg622Trp
CA287441461
NM_001033859.2:c.1864C>T