ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825980438
Gene: NEB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198810
ClinVar RCV Id:
RCV000245711
RCV000514389
RCV001085642
RCV001578687
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157979.2:p.Lys180Arg
CA247643
NM_001164507.2:c.539A>G