ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658675917
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458586
ClinVar RCV Id:
RCV000557856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619639.3:p.Leu3543Ser
CA364433489
NM_138694.3:c.10628T>C