Canonical Allele Identifier: PA2830258670
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ser3209Arg
CA364420664
NM_138694.3:c.9627C>G
CA364420665
NM_138694.3:c.9627C>A
CA364420670
NM_138694.3:c.9625A>C