ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915955834
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433981
ClinVar RCV Id:
RCV000500754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Thr2422Lys
CA394371051
NM_001009944.3:c.7265C>A