ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916058614
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498018
ClinVar RCV Id:
RCV000593464
RCV001163885
RCV003935596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.Asp220Asn
CA3853833
NM_170724.3:c.658G>A