ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693647
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91617
ClinVar RCV Id:
RCV000077134
RCV000218431
RCV000234532
RCV000759529
RCV001193691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys1243Glu
CA002491
NM_007297.4:c.3727A>G