Canonical Allele Identifier: PA916059396
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502043
ClinVar RCV Id: RCV000596307 RCV001088747 RCV002470925 RCV003953000
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Arg1624Gln
CA3852650
NM_170724.3:c.4871G>A