ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825111513
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Thr3509Met
CA7829531
NM_000296.4:c.10526C>T