Canonical Allele Identifier: PA658829639
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ser270Arg
CA3853750
NM_138694.3:c.810C>A
CA364431155
NM_138694.3:c.810C>G
CA364431170
NM_138694.3:c.808A>C