Canonical Allele Identifier: PA180313
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167489
ClinVar RCV Id: RCV000153718 RCV000168029 RCV000224414 RCV001291851 RCV001449932 RCV001507102
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Tyr1136Cys
CA180312
NM_138694.3:c.3407A>G