ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580351349
Gene: AFG3L2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2058030
ClinVar RCV Id:
RCV002928376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006787.2:p.Lys710Ile
CA8896304
NM_006796.3:c.2129A>T