Canonical Allele Identifier: PA645507842
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286651
ClinVar RCV Id: RCV000373143 RCV000414198 RCV003391047 RCV001580479
ClinVar Variation Id: 2764261
ClinVar RCV Id: RCV003503329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Gly1712Arg
CA3852602
NM_138694.3:c.5134G>A
CA364428466
NM_138694.3:c.5134G>C