ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004069
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_000009.1:p.Glu414Lys
CA397724666
NM_000018.4:c.1240G>A