ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499286557
Gene: COG6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001302834
ClinVar Variation:
1005886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Leu186Met
CA6958371
NM_020751.3:c.556C>A