ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828817620
Gene: COG8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366190.1:p.Leu517Val
CA8133684
NM_001379261.1:c.1549C>G