Canonical Allele Identifier: PA2830255357
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805432
ClinVar RCV Id: RCV002471850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Asn727Asp
CA364443880
NM_138694.3:c.2179A>G