ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139691791
Gene: ACADVL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001286682
ClinVar Variation:
994035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Glu485Lys
CA397724999
NM_001270447.2:c.1453G>A