ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA189941
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54479
ClinVar RCV Id:
RCV000077506
RCV000164061
RCV001318153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu720Lys
CA001444
NM_007294.4:c.2158G>A