Canonical Allele Identifier: PA645507846
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283652
ClinVar RCV Id: RCV000365257 RCV000725304
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Pro1791Leu
CA501106
NM_138694.3:c.5372C>T