Canonical Allele Identifier: PA2580500788
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2189952
ClinVar RCV Id: RCV002611948

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg3615Lys
CA3851007
NM_138694.3:c.10844G>A