ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992329
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96949
ClinVar RCV Id:
RCV000083070
RCV000567641
RCV002513859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Leu676Arg
CA003509
NM_007298.3:c.2027T>G