Canonical Allele Identifier: PA098223
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188813
ClinVar RCV Id: RCV000169149 RCV000494184 RCV001291886 RCV001542752
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile2331Lys
CA273991
NM_138694.3:c.6992T>A