ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA223836
Gene: COG8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
102113
ClinVar RCV:
RCV000082298
RCV000723761
RCV001317887
RCV003964945
ClinVar Variation:
96219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115758.3:p.Thr561Met
CA223835
NM_032382.5:c.1682C>T