ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233383
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009228.2:p.Glu1443Ter
NM_007297.4:c.[4326del;4328A>T;4330C>A]
NM_007297.4:c.[4326del;4328A>T;4330C>G]
NM_007297.4:c.4327G>T