ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148260
Gene: NEB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001258137.1:p.Lys2613Asn
NM_001271208.1:c.7839G>C
NM_001271208.1:c.7839G>T