ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253442
Gene: CNGB3
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_061971.3:p.Arg203Ter
NM_019098.5:c.607C>T