ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580395419
Gene: COG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2401465
ClinVar RCV Id:
RCV002758825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056201.2:p.Ala717Val
CA8144022
NM_015386.3:c.2150C>T