Allele Registry

Canonical Allele Identifier: PA916058985

Gene: PKHD1 HGNC NCBI

ClinVar Variation Id: 501349

HGVS (amino-acid)	Matching Registered Transcripts
NP_733842.2:p.Thr721Met	CA3853314 NM_170724.3:c.2162C>T