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_011512983.1:p.[Val3153_Asn3159del;Val3161_Val3163del;Thr3165_Phe3169del;Ile3172_Ser3180del;Asn3182del]
CA1628502340
XM_011514681.1:c.9456dup