ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579961160
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu30Pro
CA2579962047
NM_007294.4:c.88_90delinsCCC