ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111080
Gene: AFG3L2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30423
ClinVar RCV Id:
RCV000023376
RCV000992830
RCV002490407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006787.2:p.Met666Val
CA342731
NM_006796.3:c.1996A>G