ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002456
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000020080
RCV000429481
RCV001807005
ClinVar Variation:
21024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Thr283Met
CA341526
NM_001270447.2:c.848C>T