ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830405596
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859422.3:p.Ser780Pro
CA4430576
NM_181733.4:c.2338T>C