ClinGen Allele Registry
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Canonical Allele Identifier:
PA321642
Gene: AFG3L2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000197194
RCV000369996
RCV000488282
RCV001262989
ClinVar Variation:
214057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006787.2:p.Leu772Phe
CA321640
NM_006796.3:c.2314C>T