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
ENSP00000360158.3:p.[Ala3616_Arg3618delinsGluGln;Arg3620_Thr3628delinsGlu;His3630_Pro3639delinsAlaIleAlaLeu;Met3641_Asn3645del]
CA2697553452
ENST00000371117.8:c.10845_10846dup