ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825110592
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3038170
ClinVar RCV Id:
RCV003919659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.Thr2414Met
CA7831207
NM_000296.4:c.7241C>T