ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690932
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462580
ClinVar RCV Id:
RCV000552520
RCV000663173
RCV000777227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro700Ser
CA10597520
NM_007297.4:c.2098C>T