ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826156629
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000593105
RCV000764474
RCV001085371
ClinVar Variation:
501586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177170.1:p.Gln583Lys
CA2684949
NM_001190241.2:c.1747C>A