ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002836
Gene: ACADVL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257377.1:p.Leu49Pro
CA397722767
NM_001270448.2:c.146T>C