Canonical Allele Identifier: PA916059290
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288471
ClinVar RCV Id: RCV000264443 RCV000374359 RCV002470838 RCV003949917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Asp1337Asn
CA3852799
NM_170724.3:c.4009G>A