ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826708115
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
320113
ClinVar RCV Id:
RCV000264840
RCV001518526
RCV003888760
RCV003969906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Glu47Lys
CA8083997
NM_001286130.2:c.139G>A