Canonical Allele Identifier: PA098333
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290977
ClinVar RCV Id: RCV000288236 RCV000317551 RCV001844826 RCV002509355 RCV003469249
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile757Leu
CA3853291
NM_138694.3:c.2269A>C