ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580500779
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1903729
ClinVar RCV Id:
RCV002586577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Val3508Ile
CA3851060
NM_138694.3:c.10522G>A