ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829654114
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006339.4:p.Ser801Pro
CA4430576
NM_006348.5:c.2401T>C