ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999518
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230481
ClinVar RCV Id:
RCV000219552
RCV002518273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu1133Ser
CA10580563
NM_007300.4:c.3398T>C