Canonical Allele Identifier: PA180302
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167479
ClinVar RCV Id: RCV000153707 RCV000169053 RCV001292335 RCV001449939 RCV001706025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Asp3139Tyr
CA180301
NM_138694.3:c.9415G>T