Canonical Allele Identifier: PA149481
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96372
ClinVar RCV Id: RCV000082522 RCV000376208 RCV001291894 RCV001530468 RCV001705789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gln3899Arg
CA149480
NM_138694.3:c.11696A>G