Canonical Allele Identifier: PA2830257167
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1383703
ClinVar RCV Id: RCV001892801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ala2063Thr
CA3852316
NM_138694.3:c.6187G>A