ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916059588
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286801
ClinVar RCV Id:
RCV000350995
RCV000819334
RCV002487239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Gln2167Lys
CA3852238
NM_170724.3:c.6499C>A