ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828835946
Gene: COG5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225317
ClinVar RCV Id:
RCV000443421
RCV000490350
RCV003917860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366443.1:p.Ile609Thr
CA4430773
NM_001379514.1:c.1826T>C