ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658681935
Gene: IFT80
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000515954
ClinVar Variation:
446654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065851.1:p.Ile191Asn
CA2685433
NM_020800.3:c.572T>A