Canonical Allele Identifier: PA916070232
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Trp3871Arg
CA3850778
NM_138694.3:c.11611T>C
CA364420086
NM_138694.3:c.11611T>A