ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825885830
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92767
ClinVar RCV Id:
RCV000078554
RCV000778735
RCV001151258
RCV001074335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Glu105Lys
CA220605
NM_001145291.2:c.313G>A