ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097857
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188876
ClinVar RCV Id:
RCV000169230
RCV001283774
RCV003927564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Arg760His
CA274068
NM_138694.3:c.2279G>A