ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829687918
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro264Ser
CA10600204
NM_007297.4:c.790C>T