Canonical Allele Identifier: PA658807828
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500968
ClinVar RCV Id: RCV000593964 RCV000860707 RCV003133390 RCV003927931
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile2364Asn
CA3852058
NM_138694.3:c.7091T>A