ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915955999
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Thr3135Met
CA394356683
NM_001009944.3:c.9404C>T