ClinGen Allele Registry
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Canonical Allele Identifier:
PA915996025
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009231.2:p.Glu368Ter
NM_007300.4:c.1100dup
NM_007300.4:c.[1100dup;1102G>A]
NM_007300.4:c.[1100dup;1102G=]
NM_007300.4:c.[1100dup;1103A=]
NM_007300.4:c.1102G>T