Canonical Allele Identifier: PA234562
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167475
ClinVar RCV Id: RCV000153703 RCV000169100 RCV000489179 RCV001292034 RCV001449953 RCV001844809 RCV003907452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ser3289Ile
CA234561
NM_138694.3:c.9866G>T