ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580383589
Gene: CEP164
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2122570
ClinVar RCV Id:
RCV003054112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055771.4:p.Tyr92Cys
CA229380205
NM_014956.5:c.275A>G