ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825335646
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1714180
ClinVar RCV Id:
RCV002297163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Glu543Ala
CA371677264
NM_001024688.3:c.1628A>C