Canonical Allele Identifier: PA224083
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96412
ClinVar RCV Id: RCV000082562 RCV000671325 RCV003945030
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg1911Cys
CA224082
NM_138694.3:c.5731C>T