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_016866436.1:p.[Val3105_Lys3106delinsArgGln;Val3108_Asn3114del;Val3116_Val3118del;Thr3120_Phe3124del;Ile3127_His3134delinsAla]
CA2695206426
XM_017010947.2:c.9312dup