ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826708684
Gene: CNGB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Pro538Leu
CA8083377
NM_001286130.2:c.1613C>T