Canonical Allele Identifier: PA2830257193
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049541

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Pro2089Leu
CA3852307
NM_138694.3:c.6266C>T