Allele Registry

Canonical Allele Identifier: PA645465515

Gene: IFT140 HGNC NCBI

ClinVar RCV:

RCV000336337

RCV001706499

ClinVar Variation:

317998

HGVS (amino-acid)	Matching Registered Transcripts
NP_055529.2:p.Ile1248Thr	CA7813042 NM_014714.4:c.3743T>C