Canonical Allele Identifier: PA916060083
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167477
ClinVar RCV Id: RCV000153705 RCV000196023 RCV001292125 RCV001572539 RCV003937433 RCV001844810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Val3263Ala
CA234563
NM_170724.3:c.9788T>C