ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742018905
Gene: COG7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_705831.1:p.Leu283Arg
CA395121560
NM_153603.4:c.848T>G