ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995882
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009231.2:p.Lys338Ter
NM_007300.4:c.[1008del;1010A>G;1013A>T]
NM_007300.4:c.[1008del;1010A>G;1013A>T;10...
NM_007300.4:c.[1008del;1010A>G;1013A>T;10...
NM_007300.4:c.1012A>T