ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827496257
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349392
ClinVar RCV Id:
RCV000339477
RCV000404018
RCV000678595
RCV001091293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337084.1:p.Asp391Asn
CA2795009
NM_001350155.3:c.1171G>A