Canonical Allele Identifier: PA916058757
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Phe372Leu
CA364428295
NM_170724.3:c.1116C>G
CA364428296
NM_170724.3:c.1116C>A
CA364428307
NM_170724.3:c.1114T>C