Canonical Allele Identifier: PA658807867
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 528299
ClinVar RCV Id: RCV000633431 RCV000681915 RCV002499047 RCV003392471
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Val2773Leu
CA3851664
NM_138694.3:c.8317G>T
CA364416571
NM_138694.3:c.8317G>C