Canonical Allele Identifier: PA236265
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191212
ClinVar RCV Id: RCV000171399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.His993Arg
CA236264
NM_138694.3:c.2978A>G