Canonical Allele Identifier: PA916058524
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357457
ClinVar RCV Id: RCV000345554 RCV000598489 RCV003418077
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Arg92Gln
CA3853984
NM_170724.3:c.275G>A