ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825139847
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1523265
ClinVar RCV Id:
RCV002038738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000274.3:p.Glu491Lys
CA355915716
NM_000283.4:c.1471G>A