Canonical Allele Identifier: PA916059994
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522152
ClinVar RCV Id: RCV000624573 RCV001292490 RCV001377108 RCV003471977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.His3049Arg
CA3851440
NM_170724.3:c.9146A>G