Canonical Allele Identifier: PA097814
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188369
ClinVar RCV Id: RCV000168407 RCV000479548 RCV000626996 RCV001331702 RCV001292108 RCV001507098 RCV003398859 RCV001844812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg1624Trp
CA334736
NM_138694.3:c.4870C>T