ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111098
Gene: AFG3L2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000023380
RCV000414375
ClinVar Variation:
30427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006787.2:p.Tyr616Cys
CA129200
NM_006796.3:c.1847A>G