Canonical Allele Identifier: PA645507812
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282761
ClinVar RCV Id: RCV000311356 RCV002059116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Thr1125Pro
CA3852958
NM_138694.3:c.3373A>C