ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671791
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485920
ClinVar RCV Id:
RCV000569911
RCV001054209
RCV002491138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Pro427Thr
CA371656207
NM_002485.5:c.1279C>A