ClinGen Allele Registry
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Canonical Allele Identifier:
PA915996130
Gene: BRCA1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009231.2:p.Ser398Ter
NM_007300.4:c.[1193del;1194dup]
NM_007300.4:c.[1193del;1195C>A]
NM_007300.4:c.[1193del;1195C>G]
NM_007300.4:c.1193C>A
NM_007300.4:c.1193C>G