ClinGen Allele Registry
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Canonical Allele Identifier:
PA165279
Gene: BRIP1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_114432.2:p.Gln414Ter
NM_032043.3:c.[1236del;1238T>G;1241A>T;12...
NM_032043.3:c.1240C>T