ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916060055
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
596361
ClinVar RCV Id:
RCV000732167
RCV001470943
RCV003165982
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Asn3191His
CA3851369
NM_170724.3:c.9571A>C