ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097867
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286684
ClinVar RCV Id:
RCV000337196
RCV001004221
RCV001535928
RCV003417901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Arg92Trp
CA3853985
NM_138694.3:c.274C>T