Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
XP_011512990.1:p.Ser3164Arg	CA364420942 XM_011514688.2:c.9492C>G CA364420943 XM_011514688.2:c.9492C>A CA364420949 XM_011514688.2:c.9490A>C