ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690500
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr629Ile
CA10597954
NM_007297.4:c.1886C>T