ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826516555
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000506090
RCV000652041
ClinVar Variation:
203584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257377.1:p.Arg383Trp
CA312274
NM_001270448.2:c.1147C>T