Canonical Allele Identifier: PA916058786
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502594
ClinVar RCV Id: RCV000597573 RCV000765892 RCV004024858 RCV003927945
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Thr436Ser
CA3853588
NM_170724.3:c.1307C>G
CA364427051
NM_170724.3:c.1306A>T