Canonical Allele Identifier: PA2742015643
Gene: PKHD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Cys1431Trp
CA364434252
NM_170724.3:c.4293T>G