ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645482906
Gene: AFG3L2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489336
ClinVar Variation:
427103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006787.2:p.Pro514Ser
CA296700786
NM_006796.3:c.1540C>T