ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097413
Gene: NBEAL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31119
ClinVar RCV Id:
RCV000024115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055990.1:p.Glu643Val
CA129689
NM_015175.3:c.1928A>T