Canonical Allele Identifier: PA916058492
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197367
ClinVar RCV Id: RCV000178381 RCV000406304 RCV001706142 RCV003927661
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asn53Ser
CA245465
NM_170724.3:c.158A>G