Canonical Allele Identifier: PA338263
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216821
ClinVar RCV Id: RCV000198885 RCV000730606 RCV003129804 RCV003967536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Leu4037Pro
CA338262
NM_138694.3:c.12110T>C