Canonical Allele Identifier: PA916059120
Gene: PKHD1 HGNC NCBI
ClinVar RCV:
RCV000449535
ClinVar Variation:
397598
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_733842.2:p.Arg994Trp
CA3853068
NM_170724.3:c.2980C>T