Canonical Allele Identifier: PA916059597
Gene: PKHD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Cys2247Trp
CA3852189
NM_170724.3:c.6741C>G