ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826197793
Gene: COG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016153
ClinVar RCV Id:
RCV001315117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182068.2:p.Ser689Trp
CA396578416
NM_001195139.2:c.2066C>G