ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672108
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001009944.2:p.Ala1818Val
NM_001009944.2:c.5453C>T