ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916058982
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290963
ClinVar RCV Id:
RCV000345048
RCV001493846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Gly698Asp
CA3853345
NM_170724.3:c.2093G>A