ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916058965
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357446
ClinVar RCV Id:
RCV000290453
RCV002524496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Glu654Lys
CA3853389
NM_170724.3:c.1960G>A