ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580179548
Gene: NEB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2164372
ClinVar RCV Id:
RCV003088001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258137.2:p.Lys7521Ala
CA2580063941
NM_001271208.2:c.22561_22562delinsGC