ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658666372
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482963
ClinVar RCV Id:
RCV000570542
RCV001057152
RCV004001008
RCV004554808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu718Arg
CA058776
NM_007294.4:c.2153T>G