ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996941
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409328
ClinVar RCV Id:
RCV000456385
RCV000569485
RCV001283889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Leu574Pro
CA10598587
NM_007300.4:c.1721T>C