ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573280193
Gene: COG6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1363079
ClinVar RCV Id:
RCV001902063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Asn341Tyr
CA6958523
NM_020751.3:c.1021A>T