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_011512985.1:p.Ser2912Arg
CA364421202
XM_011514683.3:c.8736T>G
CA364421203
XM_011514683.3:c.8736T>A
CA364421209
XM_011514683.3:c.8734A>C