ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827496243
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349391
ClinVar RCV Id:
RCV000303010
RCV000392694
RCV000931351
RCV003888835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337084.1:p.Ala380Pro
CA2794998
NM_001350155.3:c.1138G>C