ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689117
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
236129
ClinVar RCV:
RCV000213319
RCV002518249
ClinVar Variation:
229946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro443Leu
CA10580665
NM_007297.4:c.1328C>T