Canonical Allele Identifier: PA916059406
Gene: PKHD1 HGNC NCBI
ClinVar RCV:
RCV000004325
ClinVar Variation:
4109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Ser1664Phe
CA253009
NM_170724.3:c.4991C>T