ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693940
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489719
ClinVar RCV Id:
RCV000579559
RCV000805852
RCV001564750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1289Cys
CA10593950
NM_007297.4:c.3865A>T