This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011512984.1:p.[Arg3572del;Arg3574_Cys3576delinsAlaGlnLeu;Thr3578_Thr3580delinsTyr;Thr3582_Pro3593delinsAsp;Met3595_Ser3600del;Arg3602del]
CA913110686
XM_011514682.3:c.10715_10716del