ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915955791
Gene: PKD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Thr2250Met
CA7831481
NM_001009944.3:c.6749C>T