ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098206
Gene: PKHD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000467466
RCV000681918
RCV001262841
RCV003401465
RCV003985354
ClinVar Variation:
406891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Ile222Val
CA3853831
NM_138694.3:c.664A>G