Canonical Allele Identifier: PA245789
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197555
ClinVar RCV Id: RCV000178612 RCV000291419 RCV003937615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr2436Ile
CA245788
NM_138694.3:c.7307C>T