ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825375047
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2746191
ClinVar RCV Id:
RCV003497720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029031.1:p.Pro630Leu
CA397726254
NM_001033859.2:c.1889C>T