Canonical Allele Identifier: PA224076
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96402
ClinVar RCV Id: RCV000082552 RCV001158630 RCV001578915 RCV002513852 RCV003894941
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ser1435Thr
CA224075
NM_138694.3:c.4304G>C