ClinGen Allele Registry
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Canonical Allele Identifier:
PA645480482
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_001288.3:p.Leu479Ile
CA8083430
NM_001297.5:c.1435C>A