ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825880316
Gene: COG6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001037540
RCV003160225
ClinVar Variation:
836416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138551.1:p.Gln472Arg
CA6958638
NM_001145079.2:c.1415A>G