Canonical Allele Identifier: PA202675
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197049
ClinVar RCV Id: RCV000177959 RCV000354123 RCV000857781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr2082Ile
CA202674
NM_138694.3:c.6245C>T