Canonical Allele Identifier: PA2580510388
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708331
ClinVar RCV Id: RCV002287704 RCV003502617
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Gly3178Cys
CA364420855
NM_170724.3:c.9532G>T