ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692313
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141223
ClinVar RCV Id:
RCV000129634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1009Cys
CA002062
NM_007297.4:c.3026C>G