Canonical Allele Identifier: PA916060048
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 550173
ClinVar RCV Id: RCV000664843 RCV001578917 RCV003231575
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asn3175Ser
CA364420872
NM_170724.3:c.9524A>G