Canonical Allele Identifier: PA224092
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96419
ClinVar RCV Id: RCV000082569 RCV001004196 RCV002272061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile2427Thr
CA224091
NM_138694.3:c.7280T>C