ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690725
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000570229
RCV000696958
ClinVar Variation:
482921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Cys665Phe
CA10597733
NM_007297.4:c.1994G>T