ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829543104
Gene: NEB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000540531
RCV000724505
RCV002492794
RCV002516829
ClinVar Variation:
199223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004534.3:p.Val4587Ile
CA248313
NM_004543.5:c.13759G>A