Canonical Allele Identifier: PA913202788
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly3511Arg
CA3851058
NM_138694.3:c.10531G>A
CA364434317
NM_138694.3:c.10531G>C