ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059804
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500183
ClinVar RCV Id:
RCV000591619
RCV001455016
RCV002532508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Gly2707Asp
CA3851730
NM_170724.3:c.8120G>A