ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097431
Gene: NBEAL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31118
ClinVar RCV Id:
RCV000024114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055990.1:p.Leu388Pro
CA129687
NM_015175.3:c.1163T>C