ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825886129
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138764.2:p.Gly44Ser
CA2794239
NM_001145292.2:c.130G>A