ClinGen Allele Registry
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Canonical Allele Identifier:
PA916059343
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96403
ClinVar RCV Id:
RCV000082553
RCV000229420
RCV000224846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Glu1448Gly
CA149510
NM_170724.3:c.4343A>G