ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829542654
Gene: NEB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1999098
ClinVar RCV Id:
RCV002815159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004534.3:p.Glu4247Lys
CA348804591
NM_004543.5:c.12739G>A