ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828836244
Gene: COG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
487322
ClinVar RCV Id:
RCV000576253
RCV003884650
RCV003945357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366444.1:p.His396Tyr
CA4430786
NM_001379515.1:c.1186C>T