Canonical Allele Identifier: PA2573098782
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1327729
ClinVar RCV Id: RCV001794671 RCV002074119 RCV003931336
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Arg3913Cys
CA3850721
NM_138694.3:c.11737C>T