Canonical Allele Identifier: PA916058667
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ser270Arg
CA3853750
NM_170724.3:c.810C>A
CA364431155
NM_170724.3:c.810C>G
CA364431170
NM_170724.3:c.808A>C