ClinGen Allele Registry
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Canonical Allele Identifier:
PA233384
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009225.1:p.Glu1490Ter
NM_007294.4:c.[4467del;4469A>T;4471C>A]
NM_007294.4:c.[4467del;4469A>T;4471C>G]
NM_007294.4:c.4468G>T