Canonical Allele Identifier: PA234585
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167495
ClinVar RCV Id: RCV000153724 RCV001079254 RCV002516090 RCV003150954 RCV003965145
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr642Ile
CA234584
NM_138694.3:c.1925C>T