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_011512984.1:p.Phe2950Leu
CA364424309
XM_011514682.3:c.8850C>G
CA364424311
XM_011514682.3:c.8850C>A
CA364424320
XM_011514682.3:c.8848T>C