ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA164967
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141273
ClinVar RCV Id:
RCV000129714
RCV000214531
RCV000229344
RCV001193652
RCV001354210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Ser638Pro
CA164965
NM_002485.5:c.1912T>C