ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091050
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92293
ClinVar RCV Id:
RCV000723572
RCV000706679
RCV003226191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000009.1:p.Val317Ala
CA220225
NM_000018.4:c.950T>C