ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499276197
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009231.2:p.Glu337Ter
NM_007300.4:c.[1008del;1010A>T]
NM_007300.4:c.[1008del;1010A>T;1012A=]
NM_007300.4:c.[1008del;1010A>T;1012A>G]
NM_007300.4:c.1009G>T