Canonical Allele Identifier: PA645507762
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282369
ClinVar RCV Id: RCV000340678 RCV001453273
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Pro599Leu
CA3853444
NM_138694.3:c.1796C>T