ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471233
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.2:p.Val3062Asp
CA16043504
NM_001009944.2:c.9185T>A