ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287900
Gene: NBN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115777
RCV000217684
RCV000700024
RCV001818277
ClinVar Variation:
127855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002476.2:p.Val364Ala
CA287898
NM_002485.5:c.1091T>C