Canonical Allele Identifier: PA2830258154
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly2835Arg
CA3851610
NM_138694.3:c.8503G>A
CA364438037
NM_138694.3:c.8503G>C