Canonical Allele Identifier: PA658807754
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 497967
ClinVar RCV Id: RCV000591315 RCV001453690 RCV002532394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg1235Trp
CA3852860
NM_138694.3:c.3703C>T