ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829711523
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240826
ClinVar RCV Id:
RCV000231811
RCV002247679
RCV001184073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Lys193Glu
CA10583589
NM_007299.4:c.577A>G