ClinGen Allele Registry
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Canonical Allele Identifier:
PA658730206
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496166
ClinVar RCV Id:
RCV000589829
RCV000701071
RCV000772494
RCV001355653
RCV003492114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ser278Ala
CA371658496
NM_002485.5:c.832T>G