ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507929
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357416
ClinVar RCV Id:
RCV000376015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Val3182Ile
CA3851376
NM_138694.3:c.9544G>A