ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825374650
Gene: ACADVL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000173951
RCV002513812
ClinVar Variation:
92271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029031.1:p.Phe347Ser
CA220189
NM_001033859.2:c.1040T>C