ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674212
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006339.3:p.His617Tyr
CA4430786
NM_006348.3:c.1849C>T