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_016866434.1:p.[Asn3127_Met3133delinsThr;His3135_Ile3145del;Leu3147Met;Asp3149_Ala3156delinsProCysTyrMet]
CA2695198858
XM_017010945.2:c.9380del