ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916003952
Gene: NEB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199223
ClinVar RCV Id:
RCV000540531
RCV000724505
RCV002516829
RCV002492794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258137.2:p.Val6288Ile
CA248313
NM_001271208.2:c.18862G>A