ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499281074
Gene: COG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016153
ClinVar RCV Id:
RCV001315117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056201.2:p.Ser714Trp
CA396578416
NM_015386.3:c.2141C>G