ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002736
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_001257376.1:p.Glu557Lys
CA285289
NM_001270447.2:c.1669G>A