ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813710
Gene: IFT172
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542658
ClinVar RCV Id:
RCV000653126
RCV001592830
RCV004547822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056477.1:p.Glu1383Lys
CA1579711
NM_015662.3:c.4147G>A