Canonical Allele Identifier: PA2830257177
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714463
ClinVar RCV Id: RCV002304376

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val2076Ile
CA364439698
NM_138694.3:c.6226G>A