Canonical Allele Identifier: PA658807683
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498428
ClinVar RCV Id: RCV000591411 RCV000860742 RCV001449937 RCV003431134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg723Leu
CA3853311
NM_138694.3:c.2168G>T