Canonical Allele Identifier: PA916059650
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188813
ClinVar RCV Id: RCV000169149 RCV000494184 RCV001291886 RCV001542752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ile2331Lys
CA273991
NM_170724.3:c.6992T>A