ClinGen Allele Registry
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Canonical Allele Identifier:
PA658739805
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.2:p.Ser2423Tyr
CA394370510
NM_001009944.2:c.7268C>A