Canonical Allele Identifier: PA246898
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198315
ClinVar RCV Id: RCV000179596 RCV001407262 RCV003129797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Glu3582Lys
CA246897
NM_138694.3:c.10744G>A