ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828817270
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843645
ClinVar RCV Id:
RCV001046319
RCV001155046
RCV001155047
RCV004031433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366176.1:p.Thr289Met
CA2794637
NM_001379247.1:c.866C>T