ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826708621
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
320095
ClinVar RCV Id:
RCV000300738
RCV001522874
RCV003888757
RCV003969905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Leu473Ile
CA8083430
NM_001286130.2:c.1417C>A