ClinGen Allele Registry
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Canonical Allele Identifier:
PA233385
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009231.2:p.Glu1511Ter
NM_007300.4:c.[4530del;4532A>T;4534C>A]
NM_007300.4:c.[4530del;4532A>T;4534C>G]
NM_007300.4:c.4531G>T