ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059359
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289885
ClinVar RCV Id:
RCV000350289
RCV000765888
RCV003409420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Glu1483Lys
CA3852721
NM_170724.3:c.4447G>A