ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119380
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001009944.2:p.Arg324Leu
NM_001009944.2:c.971G>T