ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248315
Gene: NEB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004534.2:p.Val4587Ile
CA248313
NM_004543.4:c.13759G>A