ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710193
Gene: AFG3L2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001122823
RCV002558214
ClinVar Variation:
889095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006787.2:p.Lys569Thr
CA8896422
NM_006796.3:c.1706A>C