ClinGen Allele Registry
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Canonical Allele Identifier:
PA645467452
Gene: COG6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000224038
RCV000432164
RCV001078557
RCV001111259
ClinVar Variation:
235506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Asn394Asp
CA6958583
NM_020751.3:c.1180A>G