Canonical Allele Identifier: PA244194
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196807
ClinVar RCV Id: RCV000177676 RCV000394147 RCV001781535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Ile1687Thr
CA244193
NM_138694.3:c.5060T>C