ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830057874
Gene: CEP192
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3142748
ClinVar RCV Id:
RCV004436133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115518.3:p.Pro2170Ser
CA8900775
NM_032142.4:c.6508C>T