Canonical Allele Identifier: PA645507841
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 262404

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Leu1709Phe
CA3852608
NM_138694.3:c.5125C>T