Canonical Allele Identifier: PA645507932
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 357415
ClinVar RCV Id: RCV000265753 RCV001526423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Asn3235Lys
CA3851350
NM_138694.3:c.9705T>A
CA364420488
NM_138694.3:c.9705T>G