ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741951507
Gene: COG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2622102
ClinVar RCV Id:
RCV003386716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056201.2:p.Ser714Leu
CA8144024
NM_015386.3:c.2141C>T