Canonical Allele Identifier: PA2573305237
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371356
ClinVar RCV Id: RCV001864514 RCV003475134
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ile222Leu
CA138924757
NM_170724.3:c.664A>C