ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826516387
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2168257
ClinVar RCV Id:
RCV003082469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257377.1:p.Glu338Lys
CA397724666
NM_001270448.2:c.1012G>A