ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825880229
Gene: COG6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1030728
ClinVar RCV Id:
RCV001332354
RCV002546553
RCV003145579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138551.1:p.Glu100Val
CA248351042
NM_001145079.2:c.299A>T