ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139760099
Gene: PKHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Arg2671Pro
CA364429200
NM_170724.3:c.8012G>C