ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830256353
Gene: PKHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Ile1687Arg
CA364428872
NM_138694.3:c.5060T>G