ClinGen Allele Registry
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Canonical Allele Identifier:
PA645442328
Gene: NBEAL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287460
ClinVar RCV Id:
RCV000384735
RCV001144871
RCV001820829
RCV003920125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055990.1:p.Gly2553Glu
CA2362226
NM_015175.3:c.7658G>A