ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645433323
Gene: CNGB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480707
RCV000764781
RCV001276131
RCV004535518
ClinVar Variation:
421450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061971.3:p.Leu498Met
CA4799998
NM_019098.5:c.1492T>A