ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA165028
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000047527
RCV000129756
RCV001753466
RCV003335081
ClinVar Variation:
54295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu523Trp
CA001049
NM_007294.4:c.1568T>G