ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827495116
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418401
ClinVar RCV Id:
RCV000479658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337083.1:p.Gly297Ser
CA2794667
NM_001350154.3:c.889G>A