Canonical Allele Identifier: PA2742015507
Gene: PKHD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Trp848Arg
CA364443125
NM_170724.3:c.2542T>C
CA364443126
NM_170724.3:c.2542T>A