ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807943
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502771
ClinVar RCV Id:
RCV000596248
RCV001159983
RCV002532684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Arg3637His
CA3850991
NM_138694.3:c.10910G>A