ClinGen Allele Registry
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Canonical Allele Identifier:
PA098510
Gene: PKHD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
488322
ClinVar RCV:
RCV000592600
RCV000723529
RCV003471950
ClinVar Variation:
496898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Ser1833Leu
CA3852501
NM_138694.3:c.5498C>T