Canonical Allele Identifier: PA2580510024
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1800553
ClinVar RCV Id: RCV002461692

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asp1641Asn
CA364430617
NM_170724.3:c.4921G>A