ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915955546
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Leu727Gln
CA394389169
NM_001009944.3:c.2180T>A