ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829708242
Gene: BRCA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1705Pro
CA10586111
NM_007300.4:c.5113A>C