Canonical Allele Identifier: PA645507834
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283530
ClinVar RCV Id: RCV000292605 RCV001454131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Asp1514His
CA3852704
NM_138694.3:c.4540G>C