ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994630
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
243118
ClinVar RCV Id:
RCV000573882
RCV000589934
RCV000816431
RCV001072330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val8Ile
CA055451
NM_007300.4:c.22G>A