Canonical Allele Identifier: PA098401
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Phe253Leu
CA138921689
NM_138694.3:c.757T>C
CA364431822
NM_138694.3:c.759C>G
CA364431823
NM_138694.3:c.759C>A