ClinGen Allele Registry
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Canonical Allele Identifier:
PA915972718
Gene: NEB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
448993
ClinVar RCV:
RCV000529425
RCV002506339
RCV003129901
ClinVar Variation:
465620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004534.3:p.Leu1980Ser
CA1910237
NM_004543.5:c.5939T>C