Allele Registry

Canonical Allele Identifier: PA098409

Gene: PKHD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Phe372Leu	CA364428295 NM_138694.3:c.1116C>G CA364428296 NM_138694.3:c.1116C>A CA364428307 NM_138694.3:c.1114T>C