ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573076071
Gene: COG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96219
ClinVar RCV Id:
RCV000082298
RCV000723761
RCV001317887
RCV003964945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366190.1:p.Thr608Met
CA223835
NM_001379261.1:c.1823C>T