Canonical Allele Identifier: PA098275
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile3167Leu
CA364420927
NM_138694.3:c.9499A>T
CA364420929
NM_138694.3:c.9499A>C