Canonical Allele Identifier: PA658829753
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 550460
ClinVar RCV Id: RCV000665211

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Met3642Thr
CA364431227
NM_138694.3:c.10925T>C