ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507775
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_619639.3:p.Gly698Asp
CA3853345
NM_138694.3:c.2093G>A