ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825374880
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000020074
RCV000077907
RCV003421925
ClinVar Variation:
21018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029031.1:p.Glu512Lys
CA285289
NM_001033859.2:c.1534G>A