ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825139571
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349308
ClinVar RCV Id:
RCV000288636
RCV000332008
RCV000785739
RCV001436063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000274.3:p.Ser161Asn
CA2793978
NM_000283.4:c.482G>A