Canonical Allele Identifier: PA658807642
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498018
ClinVar RCV Id: RCV000593464 RCV001163885 RCV003935596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Asp220Asn
CA3853833
NM_138694.3:c.658G>A