ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139689243
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
981084
ClinVar RCV Id:
RCV001260359
RCV001830062
RCV002379962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Thr265Ile
CA8337819
NM_001270447.2:c.794C>T