Canonical Allele Identifier: PA916058458
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4108
ClinVar RCV Id: RCV000004324 RCV000023566 RCV000082517 RCV000414898 RCV000626993 RCV000845138 RCV001535891 RCV002287322 RCV003415647 RCV004018552
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Thr36Met
CA129366
NM_170724.3:c.107C>T