ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829701078
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409300
ClinVar RCV Id:
RCV000469376
RCV000775750
RCV000586375
RCV001072254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Leu597Met
CA10591328
NM_007298.3:c.1789C>A