ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA230731
Gene: NBN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127009
ClinVar RCV Id:
RCV000114875
RCV000115780
RCV000123203
RCV000212745
RCV000757930
RCV001358304
RCV000515275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Leu421Ser
CA230729
NM_002485.5:c.1262T>C