ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573064114
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Val3200Phe
CA394355458
NM_001009944.3:c.9598G>T