ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827495503
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349398
ClinVar RCV Id:
RCV000323274
RCV000378001
RCV001520398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337083.1:p.Arg542Trp
CA2795106
NM_001350154.3:c.1624C>T