Canonical Allele Identifier: PA2830256286
Gene: PKHD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Cys1613Phe
CA364431089
NM_138694.3:c.4838G>T