ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825879731
Gene: COG2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000955891
RCV001638021
ClinVar Variation:
775694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138508.1:p.Val588Ile
CA1447857
NM_001145036.2:c.1762G>A