ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083968161
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.His1283Leu
CA10594268
NM_007300.4:c.3848A>T