Canonical Allele Identifier: PA358283
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 209979
ClinVar RCV Id: RCV000191921 RCV000490531 RCV001119868 RCV001489289
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001288.3:p.Pro530Arg
CA358282
NM_001297.5:c.1589C>G