Canonical Allele Identifier: PA916060058
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 555379
ClinVar RCV Id: RCV000671195
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Lys3195del
CA658821794
NM_170724.3:c.9583_9585del