ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066163
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143067
ClinVar RCV Id:
RCV000132575
RCV002250571
RCV001857473
RCV003888538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Ile535Asn
CA270010
NM_001145291.2:c.1604T>A