ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002601
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000544920
RCV001591287
RCV004024301
ClinVar Variation:
474878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Gly430Ala
CA287439291
NM_001270447.2:c.1289G>C