ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580129942
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Arg4228Leu
CA394320918
NM_001009944.3:c.12683G>T