Canonical Allele Identifier: PA916058674
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 497776
ClinVar RCV Id: RCV000592287 RCV001860162 RCV003465335 RCV003403388
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Phe283Leu
CA3853741
NM_170724.3:c.847T>C
CA364430965
NM_170724.3:c.849T>G
CA364430968
NM_170724.3:c.849T>A