ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066139
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349289
ClinVar RCV Id:
RCV000309731
RCV000362223
RCV001861233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Thr57Met
CA2793860
NM_001145291.2:c.170C>T