ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573099777
Gene: PKHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1326142
ClinVar RCV Id:
RCV001786203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733842.2:p.His3128Pro
CA364421192
NM_170724.3:c.9383A>C