Canonical Allele Identifier: PA2825795240
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 320113
ClinVar RCV Id: RCV000264840 RCV001518526 RCV003888760 RCV003969906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129111.1:p.Glu47Lys
CA8083997
NM_001135639.2:c.139G>A