Canonical Allele Identifier: PA2830255722
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly1053Arg
CA364441772
NM_138694.3:c.3157G>C
CA364441773
NM_138694.3:c.3157G>A