ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139729907
Gene: COG6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Asn416Ser
CA6958594
NM_020751.3:c.1247A>G