ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956074
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Ser3466Leu
CA7829625
NM_001009944.3:c.10397C>T