ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825795284
Gene: CNGB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129111.1:p.Ala78Thr
CA8083935
NM_001135639.2:c.232G>A