ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111011
Gene: AFG3L2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006787.2:p.Glu691Lys
NM_006796.3:c.2071G>A