ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825334613
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480031
ClinVar RCV Id:
RCV000574393
RCV000813090
RCV003470831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Thr194Ser
CA371658517
NM_001024688.3:c.580A>T