ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683911
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Arg542Trp
CA2794623
NM_001145291.2:c.1624C>T