ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825334534
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133336
ClinVar RCV:
RCV000115805
RCV000121624
RCV000168183
RCV000656925
RCV003952554
ClinVar Variation:
127879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019859.1:p.Thr171Ile
CA160999
NM_001024688.3:c.512C>T