ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689384
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54295
ClinVar RCV Id:
RCV000047527
RCV000129756
RCV001753466
RCV003335081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu476Trp
CA001049
NM_007297.4:c.1427T>G