ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825334241
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000164059
RCV000473711
RCV000483231
RCV001354099
ClinVar Variation:
184749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Arg7Pro
CA189935
NM_001024688.3:c.20G>C