ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098641
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370239
ClinVar RCV Id:
RCV000411938
RCV002488836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Tyr1838Cys
CA3852499
NM_138694.3:c.5513A>G